Q39H (p.Gln39His) variant of RLBP1 (Retinaldehyde-binding protein 1)
Q39H (p.Gln39His) 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 0.42 / 1. The record also includes structural context.
Q39H (p.Gln39His) variant details
- p.Gln39His
- rs2051601227
- ClinGen CA393731703
- ClinVar RCV001978622
- Ensembl rs2051601227
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- AlphaMissense 0.10
- MetaLR 0.35
- MetaSVM -0.49
- PolyPhen-2 0.23
- SIFT 0.13
- MutPred 0.20
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available