D92H (p.Asp92His) variant of RLBP1 (Retinaldehyde-binding protein 1)
D92H (p.Asp92His) in RLBP1 (Retinaldehyde-binding protein 1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
D92H (p.Asp92His) variant details
- p.Asp92His
- Ensembl rs1567123888
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.683
- REVEL 0.70
- CADD 24.10
- PolyPhen-2 0.80
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available