I18V (p.Ile18Val) variant of BCL11B (B-cell lymphoma/leukemia 11B)
I18V (p.Ile18Val) in BCL11B (B-cell lymphoma/leukemia 11B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
I18V (p.Ile18Val) variant details
- p.Ile18Val
- ExAC rs776227216
- gnomAD rs776227216
- Missense
- Variant Prioritization Score for Impact Estimate 0.165
- REVEL 0.08
- CADD 19.80
- PolyPhen-2 0.00
- SIFT 0.42
- Most common in the East Asian population (allele frequency 3e-05)
- Structural context available