V53A (p.Val53Ala) variant of PDE6B (P35913)
V53A (p.Val53Ala) 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 and structural context.
V53A (p.Val53Ala) variant details
- p.Val53Ala
- ExAC rs746580719
- TOPMed rs746580719
- gnomAD rs746580719
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- REVEL 0.14
- MetaLR 0.26
- MetaSVM -0.68
- CADD 21.50
- PolyPhen-2 0.00
- SIFT 0.04
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available