H4N (p.His4Asn) variant of COL5A1 (Collagen alpha-1(V) chain)
H4N (p.His4Asn) in COL5A1 (Collagen alpha-1(V) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
H4N (p.His4Asn) variant details
- p.His4Asn
- gnomAD 9-134642197-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- REVEL 0.27
- MetaLR 0.60
- MetaSVM -0.52
- CADD 19.60
- PolyPhen-2 0.11
- SIFT 0.17
- Population evidence available
- Structural context available
- Literature evidence available