T123A (p.Thr123Ala) variant of ADH1B (P00325)
T123A (p.Thr123Ala) in ADH1B (P00325) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
T123A (p.Thr123Ala) variant details
- p.Thr123Ala
- TOPMed rs1329350526
- gnomAD rs1329350526
- Missense
- Variant Prioritization Score for Impact Estimate 0.139
- REVEL 0.03
- CADD 17.90
- PolyPhen-2 0.00
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available