T21A (p.Thr21Ala) variant of BACH2 (Q9BYV9)
T21A (p.Thr21Ala) in BACH2 (Q9BYV9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data.
T21A (p.Thr21Ala) variant details
- p.Thr21Ala
- rs2533639266
- ClinGen CA365069543
- ClinVar RCV002686054
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.235
- REVEL 0.03
- CADD 15.00
- PolyPhen-2 0.00
- SIFT 0.38
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)