D26H (p.Asp26His) variant of ADH1B (P00325)
D26H (p.Asp26His) in ADH1B (P00325) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
D26H (p.Asp26His) variant details
- p.Asp26His
- TOPMed rs1182162110
- gnomAD rs1182162110
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- REVEL 0.15
- CADD 24.10
- PolyPhen-2 0.56
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available