L113W (p.Leu113Trp) variant of ADH1B (P00325)
L113W (p.Leu113Trp) in ADH1B (P00325) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
L113W (p.Leu113Trp) variant details
- p.Leu113Trp
- gnomAD rs1439495602
- Missense
- Variant Prioritization Score for Impact Estimate 0.105
- REVEL 0.04
- CADD 15.60
- PolyPhen-2 0.55
- SIFT 0.16
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available