Q64L (p.Gln64Leu) variant of PDE6B (P35913)
Q64L (p.Gln64Leu) in PDE6B (P35913) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
Q64L (p.Gln64Leu) variant details
- p.Gln64Leu
- gnomAD 4-625817-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- REVEL 0.21
- CADD 19.20
- PolyPhen-2 0.00
- SIFT 0.09
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available
- Literature evidence available