V16F (p.Val16Phe) variant of COL5A2 (Collagen alpha-2(V) chain)
V16F (p.Val16Phe) in COL5A2 (Collagen alpha-2(V) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
V16F (p.Val16Phe) variant details
- p.Val16Phe
- gnomAD rs1371109056
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.38
- CADD 20.60
- PolyPhen-2 0.00
- SIFT 0.07
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available