F11C (p.Phe11Cys) variant of PDE6B (P35913)
F11C (p.Phe11Cys) in PDE6B (P35913) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
F11C (p.Phe11Cys) variant details
- p.Phe11Cys
- gnomAD 4-625658-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.506
- REVEL 0.58
- CADD 23.70
- PolyPhen-2 0.95
- SIFT 0.00
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- Literature evidence available