H48N (p.His48Asn) variant of ADH1B (P00325)
H48N (p.His48Asn) 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 0.18 / 1. The record also includes population frequency data and structural context.
H48N (p.His48Asn) variant details
- p.His48Asn
- ExAC rs761042153
- TOPMed rs761042153
- gnomAD rs761042153
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.178
- REVEL 0.08
- CADD 17.20
- PolyPhen-2 0.02
- SIFT 0.06
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance (in dbSNP:rs1229984)
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available