V25F (p.Val25Phe) variant of COL6A2 (Collagen alpha-2(VI) chain)
V25F (p.Val25Phe) in COL6A2 (Collagen alpha-2(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
V25F (p.Val25Phe) variant details
- p.Val25Phe
- gnomAD 21-46111549-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.27
- CADD 9.23
- PolyPhen-2 0.04
- SIFT 0.12
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available