P61S (p.Pro61Ser) variant of PRPH2 (Peripherin-2)
P61S (p.Pro61Ser) 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 0.75 / 1. The record also includes population frequency data and structural context.
P61S (p.Pro61Ser) variant details
- p.Pro61Ser
- rs2548309867
- ClinGen CA364138501
- ClinVar RCV003757316
- Uncertain significance
- PRPH2-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.747
- REVEL 0.72
- CADD 26.00
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Uncertain significance (PRPH2-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available