R13Q (p.Arg13Gln) variant of PRPH2 (Peripherin-2)
R13Q (p.Arg13Gln) in PRPH2 (Peripherin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
R13Q (p.Arg13Gln) variant details
- p.Arg13Gln
- rs745427463
- ClinGen CA3808676
- ClinVar RCV001530270
- ExAC rs745427463
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.596
- REVEL 0.45
- CADD 26.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic (in RP7)
- UniProt: Likely pathogenic (in RP7)
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available