W25C (p.Trp25Cys) variant of PRPH2 (Peripherin-2)
W25C (p.Trp25Cys) 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; Retinitis pigmentosa. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
W25C (p.Trp25Cys) variant details
- p.Trp25Cys
- rs146686238
- 1000Genomes rs146686238
- ESP rs146686238
- ExAC rs146686238
- Uncertain significance
- PRPH2-related disorder; Retinitis pigmentosa
- Missense
- Variant Prioritization Score for Impact Estimate 0.8
- REVEL 0.82
- CADD 26.60
- PolyPhen-2 0.53
- SIFT 0.00
- ClinVar: Uncertain significance (PRPH2-related disorder; Retinitis pigmentosa)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MANDENKA population (allele frequency 0.05)
- Structural context available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)
- Cited in: Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). (PMID 22234150)