A20D (p.Ala20Asp) variant of RLBP1 (Retinaldehyde-binding protein 1)
A20D (p.Ala20Asp) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes structural context.
A20D (p.Ala20Asp) variant details
- p.Ala20Asp
- rs774472430
- ClinGen CA393731829
- ClinVar RCV001346182
- ExAC rs774472430
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.496
- AlphaMissense 0.17
- MetaLR 0.54
- MetaSVM 0.01
- PolyPhen-2 0.63
- SIFT 0.01
- MutPred 0.30
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available