R13L (p.Arg13Leu) variant of PRPH2 (Peripherin-2)
R13L (p.Arg13Leu) in PRPH2 (Peripherin-2) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic in the context of in RP7. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
R13L (p.Arg13Leu) variant details
- p.Arg13Leu
- ExAC rs745427463
- gnomAD rs745427463
- Likely pathogenic
- in RP7
- Missense
- Variant Prioritization Score for Impact Estimate 0.659
- REVEL 0.56
- CADD 26.00
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Likely pathogenic (in RP7)
- UniProt: Likely pathogenic (in RP7)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available