D17V (p.Asp17Val) variant of PDE6B (P35913)
D17V (p.Asp17Val) in PDE6B (P35913) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
D17V (p.Asp17Val) variant details
- p.Asp17Val
- ExAC rs758552173
- gnomAD rs758552173
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.07
- MetaLR 0.14
- MetaSVM -1.00
- CADD 6.37
- PolyPhen-2 0.00
- SIFT 0.25
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available