C44R (p.Cys44Arg) variant of PDE6B (P35913)
C44R (p.Cys44Arg) in PDE6B (P35913) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
C44R (p.Cys44Arg) variant details
- p.Cys44Arg
- gnomAD 4-625756-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.179
- REVEL 0.03
- CADD 7.34
- PolyPhen-2 0.01
- SIFT 0.36
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available
- Literature evidence available