A8S (p.Ala8Ser) variant of PDE6B (P35913)
A8S (p.Ala8Ser) in PDE6B (P35913) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
A8S (p.Ala8Ser) variant details
- p.Ala8Ser
- gnomAD 4-625648-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- REVEL 0.19
- CADD 21.30
- PolyPhen-2 0.07
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available