P36L (p.Pro36Leu) variant of RLBP1 (Retinaldehyde-binding protein 1)
P36L (p.Pro36Leu) 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 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
P36L (p.Pro36Leu) variant details
- p.Pro36Leu
- rs200143313
- ClinGen CA10647445
- ClinVar RCV000276867
- ClinVar RCV000326172
- Uncertain significance
- Newfoundland cone-rod dystrophy; Retinitis pigmentosa; Pigmentary retinal dystro
- Missense
- Variant Prioritization Score for Impact Estimate 0.112
- REVEL 0.15
- CADD 0.42
- PolyPhen-2 0.00
- SIFT 0.19
- ClinVar: Uncertain significance (Newfoundland cone-rod dystrophy; Retinitis pigmentosa; Pigmentar)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)
- Cited in: Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). (PMID 22234150)