L62F (p.Leu62Phe) variant of ADH1B (P00325)
L62F (p.Leu62Phe) in ADH1B (P00325) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
L62F (p.Leu62Phe) variant details
- p.Leu62Phe
- cosmic curated COSV10642
- ExAC rs769213527
- TOPMed rs769213527
- gnomAD rs769213527
- Missense
- Variant Prioritization Score for Impact Estimate 0.228
- REVEL 0.06
- CADD 0.44
- PolyPhen-2 0.02
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available