C62F (p.Cys62Phe) variant of COL5A2 (Collagen alpha-2(V) chain)
C62F (p.Cys62Phe) in COL5A2 (Collagen alpha-2(V) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
C62F (p.Cys62Phe) variant details
- p.Cys62Phe
- ExAC rs760636865
- gnomAD rs760636865
- Missense
- Variant Prioritization Score for Impact Estimate 0.836
- REVEL 0.86
- CADD 27.50
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available