S11S (p.Ser11Ser) variant of COL5A1 (Collagen alpha-1(V) chain)
S11S (p.Ser11Ser) in COL5A1 (Collagen alpha-1(V) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
S11S (p.Ser11Ser) variant details
- p.Ser11Ser
- gnomAD 9-134642220-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.274
- CADD 13.30
- Population evidence available
- Structural context available
- Literature evidence available