M11V (p.Met11Val) variant of BACH2 (Q9BYV9)
M11V (p.Met11Val) 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 0.40 / 1. The record also includes population frequency data.
M11V (p.Met11Val) variant details
- p.Met11Val
- TOPMed rs1432967879
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- REVEL 0.33
- AlphaMissense 0.17
- MetaLR 0.03
- MetaSVM -1.03
- CADD 22.60
- PolyPhen-2 0.36
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)