K19E (p.Lys19Glu) variant of ADH1B (P00325)
K19E (p.Lys19Glu) in ADH1B (P00325) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
K19E (p.Lys19Glu) variant details
- p.Lys19Glu
- ExAC rs753422844
- gnomAD rs753422844
- Missense
- Variant Prioritization Score for Impact Estimate 0.126
- REVEL 0.04
- CADD 8.64
- PolyPhen-2 0.00
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available