S4R (p.Ser4Arg) variant of PDE6B (P35913)
S4R (p.Ser4Arg) in PDE6B (P35913) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
S4R (p.Ser4Arg) variant details
- p.Ser4Arg
- gnomAD 4-625635-CAGTG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.42
- CADD 23.20
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available
- Literature evidence available