N15Y (p.Asn15Tyr) variant of PDE6B (P35913)
N15Y (p.Asn15Tyr) in PDE6B (P35913) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
N15Y (p.Asn15Tyr) variant details
- p.Asn15Tyr
- gnomAD 4-625669-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.527
- REVEL 0.55
- CADD 23.60
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available