L140V (p.Leu140Val) variant of BACH2 (Q9BYV9)
L140V (p.Leu140Val) 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 0.32 / 1. The record also includes population frequency data.
L140V (p.Leu140Val) variant details
- p.Leu140Val
- rs1774134869
- ClinGen CA365073060
- ClinVar RCV002944255
- TOPMed rs1774134869
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.12
- CADD 22.70
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)