H4L (p.His4Leu) variant of COL5A1 (Collagen alpha-1(V) chain)
H4L (p.His4Leu) in COL5A1 (Collagen alpha-1(V) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
H4L (p.His4Leu) variant details
- p.His4Leu
- gnomAD 9-134642198-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- REVEL 0.46
- MetaLR 0.63
- MetaSVM -0.38
- CADD 22.30
- PolyPhen-2 0.23
- SIFT 0.36
- Population evidence available
- Structural context available
- Literature evidence available