R172Q (p.Arg172Gln) variant of PRPH2 (Peripherin-2)
R172Q (p.Arg172Gln) 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 Vitelliform macular dystrophy 3; Patterned dystrophy of the retinal pigment epit. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
R172Q (p.Arg172Gln) variant details
- p.Arg172Gln
- rs61755793
- ClinGen CA122930
- ClinVar RCV000014053
- ClinVar RCV000084982
- Pathogenic/Likely pathogenic
- Vitelliform macular dystrophy 3; Patterned dystrophy of the retinal pigment epit
- Missense
- Variant Prioritization Score for Impact Estimate 0.591
- REVEL 0.45
- AlphaMissense 0.85
- MetaLR 0.60
- MetaSVM 0.23
- CADD 25.20
- PolyPhen-2 0.69
- ClinVar: Pathogenic/Likely pathogenic (Vitelliform macular dystrophy 3; Patterned dystrophy of the reti)
- EBI: Pathogenic (in some patients with macular dystrophy)
- UniProt: Pathogenic (in some patients with macular dystrophy)
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy. (PMID 8485576)
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)