D30V (p.Asp30Val) variant of COL5A2 (Collagen alpha-2(V) chain)
D30V (p.Asp30Val) in COL5A2 (Collagen alpha-2(V) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
D30V (p.Asp30Val) variant details
- p.Asp30Val
- TOPMed rs892085408
- gnomAD rs892085408
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.32
- CADD 18.70
- PolyPhen-2 0.00
- SIFT 0.06
- Most common in the East Asian population (allele frequency 7.6e-05)
- Structural context available