P31T (p.Pro31Thr) variant of ADH1B (P00325)
P31T (p.Pro31Thr) in ADH1B (P00325) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
P31T (p.Pro31Thr) variant details
- p.Pro31Thr
- rs775325816
- ClinGen CA3020088
- ClinVar RCV004292650
- ExAC rs775325816
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- REVEL 0.24
- CADD 21.90
- PolyPhen-2 0.12
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- Structural context available