Q130K (p.Gln130Lys) variant of BACH2 (Q9BYV9)
Q130K (p.Gln130Lys) 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 0.43 / 1. The record also includes population frequency data.
Q130K (p.Gln130Lys) variant details
- p.Gln130Lys
- rs776001544
- ClinGen CA3928178
- ClinVar RCV003857193
- ExAC rs776001544
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.429
- REVEL 0.21
- CADD 21.00
- PolyPhen-2 0.39
- SIFT 0.59
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)