N31Y (p.Asn31Tyr) variant of PDE6B (P35913)
N31Y (p.Asn31Tyr) in PDE6B (P35913) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
N31Y (p.Asn31Tyr) variant details
- p.Asn31Tyr
- gnomAD 4-625717-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.112
- REVEL 0.15
- CADD 1.24
- PolyPhen-2 0.03
- SIFT 0.11
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available
- Literature evidence available