V44A (p.Val44Ala) variant of ADH1B (P00325)
V44A (p.Val44Ala) 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 0.28 / 1. The record also includes population frequency data and structural context.
V44A (p.Val44Ala) variant details
- p.Val44Ala
- ExAC rs765352854
- TOPMed rs765352854
- gnomAD rs765352854
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.15
- CADD 22.40
- PolyPhen-2 0.00
- SIFT 0.05
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available