CARD14 p.Pro611=
c.1833G>A · rs534430051 · VCV794283
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
ultra-rare (popmax 0.0835%, sas)
Conditions
2
pityriasis rubra pilaris
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -20 | GERP -2.7 |
| Overall | ||
| CADD | 0.04 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0835%
South Asian · 76/91,004 alleles
Filtering AF
0.0684%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0628%
Overall
0.00837%
135/1,612,544 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 0.0835% | 1,197 |
| European (non-Finnish) | 0.00475% | 21,066 |
| Remaining individualsnot grpmax-eligible | 0.0032% | 31,234 |
| Finnishnot grpmax-eligible | 0.00159% | 62,956 |
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- CARD14
- Protein
- p.Pro611=
- Coding
- c.1833G>A
- MANE Select
- NM_001366385
- dbSNP
- rs534430051
- Type
- single nucleotide variant
- Location
- chr17:80198573 (GRCh38)
- Gene constraint
- LOEUF 1.222 · pLI <0.01 · ClinGen HI 0/3 (gnomAD)
- Structure
- AlphaFold pLDDT 75.89
- Residue 611
- the pdz domain
Similar variants
- CARD14 p.Pro611Leu Conflicting classifications of pathogenicity ★ ⚠ same residue
- CARD14 p.Pro611Ser Uncertain significance ★ ⚠ same residue
- CARD14 c.349+1G>A Pathogenic ★★ same condition
- CARD14 p.Leu156Pro Pathogenic/Likely pathogenic ★★ same condition
- CARD14 p.Met119Thr Pathogenic/Likely pathogenic ★★ ⚠ same condition
- CARD14 c.1089+5C>G Uncertain significance ★★ same condition
- CARD14 c.1357-1G>A Uncertain significance ★★ same condition
- CARD14 c.2569+2T>A Uncertain significance ★★ same condition
Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →
Cite Sugi Variant
Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/card14-p-pro611 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown