S77N (p.Ser77Asn) variant of BACH2 (Q9BYV9)
S77N (p.Ser77Asn) in BACH2 (Q9BYV9) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data.
S77N (p.Ser77Asn) variant details
- p.Ser77Asn
- TOPMed rs1302804378
- gnomAD rs1302804378
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.10
- CADD 23.10
- PolyPhen-2 0.09
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)