C36Y (p.Cys36Tyr) variant of PDE6B (P35913)
C36Y (p.Cys36Tyr) 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.
C36Y (p.Cys36Tyr) variant details
- p.Cys36Tyr
- gnomAD 4-625733-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.112
- REVEL 0.08
- CADD 2.04
- PolyPhen-2 0.03
- SIFT 1.00
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- Literature evidence available