K15R (p.Lys15Arg) variant of PRPH2 (Peripherin-2)
K15R (p.Lys15Arg) in PRPH2 (Peripherin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cone-rod dystrophy; Choroidal dystrophy, central areolar 2; PRPH2-related disord. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
K15R (p.Lys15Arg) variant details
- p.Lys15Arg
- rs555112175
- ClinGen CA3808674
- ClinVar RCV001163149
- ClinVar RCV001163150
- Conflicting interpretations
- Cone-rod dystrophy; Choroidal dystrophy, central areolar 2; PRPH2-related disord
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.24
- CADD 21.20
- PolyPhen-2 0.01
- SIFT 0.29
- ClinVar: Conflicting classifications of pathogenicity (Cone-rod dystrophy; Choroidal dystrophy, central areolar 2; PRPH)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:KHV population (allele frequency 0.005)
- Structural context available
- Cited in: Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). (PMID 22234150)
- Cited in: Cone rod dystrophies. (PMID 17270046)