V69L (p.Val69Leu) variant of PRPH2 (Peripherin-2)
V69L (p.Val69Leu) in PRPH2 (Peripherin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; PRPH2-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
V69L (p.Val69Leu) variant details
- p.Val69Leu
- rs558060514
- ExAC rs558060514
- TOPMed rs558060514
- gnomAD rs558060514
- Uncertain significance
- not provided; PRPH2-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.196
- REVEL 0.25
- CADD 5.61
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Patterned macular dystrophy 1; Retinitis pigmentosa 7; Pigmentar)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available