V124A (p.Val124Ala) variant of COL5A2 (Collagen alpha-2(V) chain)
V124A (p.Val124Ala) in COL5A2 (Collagen alpha-2(V) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
V124A (p.Val124Ala) variant details
- p.Val124Ala
- ExAC rs745971216
- gnomAD rs745971216
- Missense
- Variant Prioritization Score for Impact Estimate 0.549
- REVEL 0.51
- CADD 23.50
- PolyPhen-2 0.19
- SIFT 0.23
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available