A102T (p.Ala102Thr) variant of RLBP1 (Retinaldehyde-binding protein 1)
A102T (p.Ala102Thr) 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 Bothnia retinal dystrophy; Newfoundland cone-rod dystrophy; Pigmentary retinal d. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
A102T (p.Ala102Thr) variant details
- p.Ala102Thr
- rs143121722
- ClinGen CA7722328
- ClinVar RCV001066913
- ClinVar RCV005394717
- Uncertain significance
- Bothnia retinal dystrophy; Newfoundland cone-rod dystrophy; Pigmentary retinal d
- Missense
- Variant Prioritization Score for Impact Estimate 0.763
- REVEL 0.83
- CADD 23.90
- PolyPhen-2 0.85
- SIFT 0.07
- ClinVar: Uncertain significance (Bothnia retinal dystrophy; Newfoundland cone-rod dystrophy; Pigm)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available