A102P (p.Ala102Pro) variant of RLBP1 (Retinaldehyde-binding protein 1)
A102P (p.Ala102Pro) in RLBP1 (Retinaldehyde-binding protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Newfoundland cone-rod dystrophy; Retinitis pigmentosa; Pigmentary retinal dystro. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
A102P (p.Ala102Pro) variant details
- p.Ala102Pro
- rs143121722
- ClinGen CA10636615
- ClinVar RCV000288924
- ClinVar RCV000350928
- Uncertain significance
- Newfoundland cone-rod dystrophy; Retinitis pigmentosa; Pigmentary retinal dystro
- Missense
- Variant Prioritization Score for Impact Estimate 0.78
- REVEL 0.85
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Newfoundland cone-rod dystrophy; Retinitis pigmentosa; Pigmentar)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)
- Cited in: Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). (PMID 22234150)