FKRP p.Ser278=
c.834C>T · rs1159572760 · VCV1763034
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0394%, mid)
Conditions
1
Cardiovascular phenotype
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 2 | GERP -0.12, phastCons 1 |
| Overall | ||
| CADD | 9.888 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0394%
Middle Eastern · 2/5,082 alleles
Filtering AF
0.00695%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0029%
Overall
0.000131%
2/1,524,288 alleles · ultra-rare
exomes 0/1,372,294 · genomes 2/151,994 · joint denominator
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
- FKRP
- Protein
- p.Ser278=
- Coding
- c.834C>T
- MANE Select
- NM_024301
- dbSNP
- rs1159572760
- Type
- single nucleotide variant
- Location
- chr19:46756284 (GRCh38)
- Gene constraint
- LOEUF 1.543 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 94.08 · 8 PDB
- Residue 278
- a β-strand
Similar variants
- FKRP p.Ser278Gly Uncertain significance ★ ⚠ same residue
- FKRP p.Gln460Ter Pathogenic/Likely pathogenic ★★ same condition
- FKRP p.Gln77Ter Pathogenic/Likely pathogenic ★★ same condition
- FKRP p.Pro462Ser Pathogenic/Likely pathogenic ★★ same condition
- FKRP p.Pro89Leu Pathogenic/Likely pathogenic ★★ ⚠ same condition
- FKRP c.-2C>A Uncertain significance ★★ same condition
- FKRP p.Ala102Glu Uncertain significance ★★ ⚠ same condition
- FKRP p.Ala113Ser 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/fkrp-p-ser278 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown