S11N (p.Ser11Asn) variant of COL5A1 (Collagen alpha-1(V) chain)
S11N (p.Ser11Asn) in COL5A1 (Collagen alpha-1(V) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
S11N (p.Ser11Asn) variant details
- p.Ser11Asn
- gnomAD 9-134642219-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.197
- REVEL 0.12
- CADD 13.40
- PolyPhen-2 0.00
- SIFT 0.21
- Population evidence available
- Structural context available
- Literature evidence available