S77T (p.Ser77Thr) variant of BACH2 (Q9BYV9)
S77T (p.Ser77Thr) in BACH2 (Q9BYV9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data.
S77T (p.Ser77Thr) variant details
- p.Ser77Thr
- rs1302804378
- ClinGen CA365068942
- ClinVar RCV003829931
- ClinVar RCV004366826
- Uncertain significance
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- REVEL 0.14
- CADD 17.40
- PolyPhen-2 0.01
- SIFT 0.84
- ClinVar: Uncertain significance (not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)