S11T (p.Ser11Thr) variant of COL5A1 (Collagen alpha-1(V) chain)
S11T (p.Ser11Thr) in COL5A1 (Collagen alpha-1(V) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
S11T (p.Ser11Thr) variant details
- p.Ser11Thr
- gnomAD 9-134642219-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.243
- REVEL 0.20
- CADD 12.70
- PolyPhen-2 0.00
- SIFT 0.26
- Population evidence available
- Structural context available
- Literature evidence available