P85R (p.Pro85Arg) variant of COL5A2 (Collagen alpha-2(V) chain)
P85R (p.Pro85Arg) in COL5A2 (Collagen alpha-2(V) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
P85R (p.Pro85Arg) variant details
- p.Pro85Arg
- gnomAD rs1304113332
- Missense
- Variant Prioritization Score for Impact Estimate 0.61
- REVEL 0.49
- CADD 24.40
- PolyPhen-2 0.83
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available