R14H (p.Arg14His) variant of COL5A1 (Collagen alpha-1(V) chain)
R14H (p.Arg14His) in COL5A1 (Collagen alpha-1(V) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
R14H (p.Arg14His) variant details
- p.Arg14His
- gnomAD 9-134642228-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- REVEL 0.27
- CADD 16.10
- PolyPhen-2 0.02
- SIFT 0.54
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available
- Literature evidence available