L254Q (p.Leu254Gln) variant of PRPH2 (Peripherin-2)
L254Q (p.Leu254Gln) 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; Patterned dystrophy of the retinal pigment epithelium; R. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature and structural context.
L254Q (p.Leu254Gln) variant details
- p.Leu254Gln
- rs1800110989
- ClinGen CA364134917
- ClinVar RCV001250340
- ClinVar RCV001250341
- Pathogenic/Likely pathogenic
- PRPH2-related disorder; Patterned dystrophy of the retinal pigment epithelium; R
- Missense
- Variant Prioritization Score for Impact Estimate 0.859
- AlphaMissense 0.91
- MetaLR 0.81
- MetaSVM 0.83
- SIFT 0.00
- MutPred 0.82
- ClinVar: Pathogenic/Likely pathogenic (PRPH2-related disorder; Patterned dystrophy of the retinal pigme)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)
- Cited in: Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). (PMID 22234150)