P495S (p.Pro495Ser) variant of COL6A1 (Collagen alpha-1(VI) chain)
P495S (p.Pro495Ser) in COL6A1 (Collagen alpha-1(VI) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Ullrich congenital muscular dystrophy 1A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and published literature.
P495S (p.Pro495Ser) variant details
- p.Pro495Ser
- rs1569518677
- ClinGen CA410528734
- ClinVar RCV000754717
- Ensembl rs1569518677
- Likely pathogenic
- Ullrich congenital muscular dystrophy 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- REVEL 0.29
- CADD 17.00
- PolyPhen-2 0.14
- SIFT 0.63
- ClinVar: Likely pathogenic (Ullrich congenital muscular dystrophy 1A)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Cited in: Collagen VI-Related Dystrophies. (PMID 20301676)
- Cited in: Consensus statement on standard of care for congenital muscular dystrophies. (PMID 21078917)