S27F (p.Ser27Phe) variant of PRPH2 (Peripherin-2)
S27F (p.Ser27Phe) in PRPH2 (Peripherin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of PRPH2-related disorder; Retinal dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
S27F (p.Ser27Phe) variant details
- p.Ser27Phe
- rs61755766
- ClinGen CA226316
- ClinVar RCV000085024
- ClinVar RCV001043298
- Pathogenic/Likely pathogenic
- PRPH2-related disorder; Retinal dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.594
- REVEL 0.56
- CADD 24.20
- PolyPhen-2 0.29
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (PRPH2-related disorder; Retinal dystrophy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available