V121E (p.Val121Glu) variant of COL5A2 (Collagen alpha-2(V) chain)
V121E (p.Val121Glu) in COL5A2 (Collagen alpha-2(V) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
V121E (p.Val121Glu) variant details
- p.Val121Glu
- gnomAD rs1478410373
- Missense
- Variant Prioritization Score for Impact Estimate 0.687
- REVEL 0.71
- CADD 27.40
- PolyPhen-2 0.73
- SIFT 0.04
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available