P85A (p.Pro85Ala) variant of COL5A2 (Collagen alpha-2(V) chain)
P85A (p.Pro85Ala) in COL5A2 (Collagen alpha-2(V) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
P85A (p.Pro85Ala) variant details
- p.Pro85Ala
- gnomAD rs957752770
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.09
- CADD 17.80
- PolyPhen-2 0.01
- SIFT 0.55
- Most common in the Middle Eastern population (allele frequency 0.00035)
- Structural context available