G31V (p.Gly31Val) variant of PRPH2 (Peripherin-2)
G31V (p.Gly31Val) in PRPH2 (Peripherin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Pigmentary retinal dystrophy; Retinitis pigmentosa; Patterned macular dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature and structural context.
G31V (p.Gly31Val) variant details
- p.Gly31Val
- rs886061404
- ClinGen CA10623961
- ClinVar RCV000261739
- ClinVar RCV000277137
- Uncertain significance
- Pigmentary retinal dystrophy; Retinitis pigmentosa; Patterned macular dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.857
- AlphaMissense 0.90
- MetaLR 0.81
- MetaSVM 0.77
- SIFT 0.00
- MutPred 0.88
- ClinVar: Uncertain significance (Pigmentary retinal dystrophy; Retinitis pigmentosa; Patterned ma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). (PMID 22234150)
- Cited in: Cone rod dystrophies. (PMID 17270046)