R195Q (p.Arg195Gln) variant of PRPH2 (Peripherin-2)
R195Q (p.Arg195Gln) 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 Patterned macular dystrophy 1; PRPH2-related disorder; Cone-rod dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
R195Q (p.Arg195Gln) variant details
- p.Arg195Gln
- rs121918567
- ClinGen CA364135876
- NCI-TCGA Cosmic COSV5783
- ClinVar RCV000761334
- Pathogenic/Likely pathogenic
- Patterned macular dystrophy 1; PRPH2-related disorder; Cone-rod dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.792
- REVEL 0.76
- CADD 32.00
- PolyPhen-2 0.86
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Patterned macular dystrophy 1; PRPH2-related disorder; Cone-rod)
- EBI: Pathogenic (in CACD2)
- UniProt: Pathogenic (in CACD2)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Cone rod dystrophies. (PMID 17270046)