A8D (p.Ala8Asp) variant of PDE6B (P35913)
A8D (p.Ala8Asp) in PDE6B (P35913) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
A8D (p.Ala8Asp) variant details
- p.Ala8Asp
- gnomAD 4-625649-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- REVEL 0.20
- CADD 17.80
- PolyPhen-2 0.28
- SIFT 0.00
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- Literature evidence available