A19V (p.Ala19Val) variant of PDE6B (P35913)
A19V (p.Ala19Val) in PDE6B (P35913) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
A19V (p.Ala19Val) variant details
- p.Ala19Val
- ExAC rs751865604
- gnomAD rs751865604
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.13
- MetaLR 0.22
- MetaSVM -0.71
- CADD 14.90
- PolyPhen-2 0.06
- SIFT 0.04
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available