P10H (p.Pro10His) variant of COL5A2 (Collagen alpha-2(V) chain)
P10H (p.Pro10His) in COL5A2 (Collagen alpha-2(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 and structural context.
P10H (p.Pro10His) variant details
- p.Pro10His
- gnomAD rs1262160231
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- REVEL 0.36
- CADD 20.40
- PolyPhen-2 0.04
- SIFT 0.59
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available