I24T (p.Ile24Thr) variant of ADH1B (P00325)
I24T (p.Ile24Thr) in ADH1B (P00325) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
I24T (p.Ile24Thr) variant details
- p.Ile24Thr
- cosmic curated COSV10461
- ExAC rs750301947
- TOPMed rs750301947
- gnomAD rs750301947
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- REVEL 0.29
- CADD 24.30
- PolyPhen-2 0.84
- SIFT 0.03
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available