I110V (p.Ile110Val) variant of BACH2 (Q9BYV9)
I110V (p.Ile110Val) in BACH2 (Q9BYV9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data.
I110V (p.Ile110Val) variant details
- p.Ile110Val
- gnomAD rs1449293089
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.24
- CADD 21.20
- PolyPhen-2 0.15
- SIFT 0.06
- Most common in the REMAINING population (allele frequency 1.7e-05)