D49G (p.Asp49Gly) variant of PDE6B (P35913)
D49G (p.Asp49Gly) 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.
D49G (p.Asp49Gly) variant details
- p.Asp49Gly
- gnomAD rs1316203326
- Missense
- Variant Prioritization Score for Impact Estimate 0.257
- REVEL 0.13
- MetaLR 0.15
- MetaSVM -0.92
- CADD 19.10
- PolyPhen-2 0.00
- SIFT 0.06
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available