L13H (p.Leu13His) variant of COL5A1 (Collagen alpha-1(V) chain)
L13H (p.Leu13His) in COL5A1 (Collagen alpha-1(V) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
L13H (p.Leu13His) variant details
- p.Leu13His
- gnomAD 9-134642225-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.212
- REVEL 0.26
- CADD 11.10
- PolyPhen-2 0.01
- SIFT 0.30
- Most common in the REMAINING population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available