T49K (p.Thr49Lys) variant of ADH1B (P00325)
T49K (p.Thr49Lys) in ADH1B (P00325) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
T49K (p.Thr49Lys) variant details
- p.Thr49Lys
- gnomAD rs1277217818
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- REVEL 0.27
- CADD 22.80
- PolyPhen-2 0.11
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available