V42A (p.Val42Ala) variant of ADH1B (P00325)
V42A (p.Val42Ala) 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 0.19 / 1. The record also includes population frequency data and structural context.
V42A (p.Val42Ala) variant details
- p.Val42Ala
- TOPMed rs1733936788
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.19
- REVEL 0.06
- CADD 18.80
- PolyPhen-2 0.04
- SIFT 0.08
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 7.2e-06)
- Structural context available