R46Q (p.Arg46Gln) variant of PRPH2 (Peripherin-2)
R46Q (p.Arg46Gln) in PRPH2 (Peripherin-2) is a missense change. Clinical records from ClinVar, EBI, 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 0.38 / 1. The record also includes population frequency data and structural context.
R46Q (p.Arg46Gln) variant details
- p.Arg46Gln
- rs746940785
- ClinGen CA3808660
- NCI-TCGA Cosmic COSV5783
- ClinVar RCV002581094
- Uncertain significance
- PRPH2-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- REVEL 0.28
- CADD 21.80
- PolyPhen-2 0.04
- SIFT 0.25
- ClinVar: Uncertain significance (PRPH2-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available