R97S (p.Arg97Ser) variant of COL6A3 (Collagen alpha-3(VI) chain)
R97S (p.Arg97Ser) in COL6A3 (Collagen alpha-3(VI) chain) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
R97S (p.Arg97Ser) variant details
- p.Arg97Ser
- ESP rs144651558
- ExAC rs144651558
- TOPMed rs144651558
- gnomAD rs144651558
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- REVEL 0.16
- MetaLR 0.23
- MetaSVM -0.93
- CADD 15.00
- PolyPhen-2 0.04
- SIFT 0.74
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available