T60S (p.Thr60Ser) variant of ADH1B (P00325)
T60S (p.Thr60Ser) in ADH1B (P00325) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.04 / 1. The record also includes population frequency data, published literature, and structural context.
T60S (p.Thr60Ser) variant details
- p.Thr60Ser
- rs6413413
- UniProt VAR 019323
- 1000Genomes rs6413413
- ESP rs6413413
- Missense
- Variant Prioritization Score for Impact Estimate 0.0402
- REVEL 0.02
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.78
- Most common in the HGDP:BERGAMOITALIAN population (allele frequency 0.045)
- Structural context available
- Literature evidence available