K46N (p.Lys46Asn) variant of BACH2 (Q9BYV9)
K46N (p.Lys46Asn) in BACH2 (Q9BYV9) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data.
K46N (p.Lys46Asn) variant details
- p.Lys46Asn
- ExAC rs753759917
- gnomAD rs753759917
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- REVEL 0.41
- CADD 24.90
- PolyPhen-2 0.99
- SIFT 0.01
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)