W97R (p.Trp97Arg) variant of PRPH2 (Peripherin-2)
W97R (p.Trp97Arg) in PRPH2 (Peripherin-2) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of PRPH2-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
W97R (p.Trp97Arg) variant details
- p.Trp97Arg
- TOPMed rs1177754731
- gnomAD rs1177754731
- Uncertain significance
- PRPH2-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- REVEL 0.38
- CADD 22.40
- PolyPhen-2 0.00
- SIFT 0.23
- ClinVar: Uncertain significance (PRPH2-related disorder)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 9e-05)
- Structural context available