S49R (p.Ser49Arg) variant of PRPH2 (Peripherin-2)
S49R (p.Ser49Arg) in PRPH2 (Peripherin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
S49R (p.Ser49Arg) variant details
- p.Ser49Arg
- ESP rs372456408
- ExAC rs372456408
- gnomAD rs372456408
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.49
- CADD 15.70
- PolyPhen-2 0.98
- SIFT 0.15
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available