N158S (p.Asn158Ser) variant of BACH2 (Q9BYV9)
N158S (p.Asn158Ser) in BACH2 (Q9BYV9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data.
N158S (p.Asn158Ser) variant details
- p.Asn158Ser
- Ensembl rs867336129
- Missense
- Variant Prioritization Score for Impact Estimate 0.253
- REVEL 0.11
- CADD 15.20
- PolyPhen-2 0.11
- SIFT 0.41
- Most common in the Middle Eastern population (allele frequency 0.00017)