V16A (p.Val16Ala) variant of COL5A2 (Collagen alpha-2(V) chain)
V16A (p.Val16Ala) in COL5A2 (Collagen alpha-2(V) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
V16A (p.Val16Ala) variant details
- p.Val16Ala
- TOPMed rs1412408364
- gnomAD rs1412408364
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.23
- CADD 22.30
- PolyPhen-2 0.00
- SIFT 0.51
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available