D92G (p.Asp92Gly) variant of RLBP1 (Retinaldehyde-binding protein 1)
D92G (p.Asp92Gly) 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 0.49 / 1. The record also includes structural context.
D92G (p.Asp92Gly) variant details
- p.Asp92Gly
- rs2150971220
- ClinGen CA393730793
- ClinVar RCV001916292
- Ensembl rs2150971220
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- AlphaMissense 0.09
- MetaLR 0.63
- MetaSVM 0.14
- PolyPhen-2 0.00
- SIFT 0.03
- EVE 0.42
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available