H126R (p.His126Arg) variant of BCL11B (B-cell lymphoma/leukemia 11B)
H126R (p.His126Arg) in BCL11B (B-cell lymphoma/leukemia 11B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
H126R (p.His126Arg) variant details
- p.His126Arg
- cosmic curated COSV61736
- ExAC rs764041113
- gnomAD rs764041113
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.09
- CADD 18.40
- PolyPhen-2 0.00
- SIFT 0.56
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available