V63M (p.Val63Met) variant of PDE6B (P35913)
V63M (p.Val63Met) in PDE6B (P35913) 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, published literature, and structural context.
V63M (p.Val63Met) variant details
- p.Val63Met
- gnomAD 4-625813-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.12
- CADD 22.60
- PolyPhen-2 0.04
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- Literature evidence available