T123N (p.Thr123Asn) variant of ADH1B (P00325)
T123N (p.Thr123Asn) 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 0.27 / 1. The record also includes population frequency data and structural context.
T123N (p.Thr123Asn) variant details
- p.Thr123Asn
- rs1427361429
- ClinGen CA357477676
- ClinVar RCV004308291
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.04
- CADD 15.40
- PolyPhen-2 0.34
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available