KERA p.Arg205=
c.615G>A · rs747616158 · VCV2084520
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0971%, amr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | no splice effect predicted · four deltas, not one · how we know |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 0.63 | GERP 0.22, phastCons 0.85 |
| Overall | ||
| CADD | 8.559 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0971%
Admixed American · 58/59,750 alleles
Filtering AF
0.0771%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0699%
Overall
0.00366%
59/1,611,288 alleles · ultra-rare
exomes 53/1,460,054 · genomes 6/151,234 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.0971% | 1,030 |
| South Asian | 0.0011% | 91,030 |
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
- KERA
- Protein
- p.Arg205=
- Coding
- c.615G>A
- MANE Select
- NM_007035
- dbSNP
- rs747616158
- Type
- single nucleotide variant
- Location
- chr12:91055667 (GRCh38)
- Gene constraint
- LOEUF 1.284 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 87.42
Similar variants
- KERA p.Arg279Ter Pathogenic ★★ same type
- KERA p.Asn247Ser Pathogenic ★★ same type
- KERA p.Arg323Cys Uncertain significance ★★ ⚠ same type
- KERA p.Pro43His Uncertain significance ★★ ⚠ same type
- KERA c.887-8C>T Benign ★★ same type
- KERA p.Gln25= Benign ★★ same type
- KERA p.Val23= Benign ★★ same type
- KERA p.Arg313Ter Pathogenic ★ same type
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/kera-p-arg205 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown