G50S (p.Gly50Ser) variant of BCL11B (B-cell lymphoma/leukemia 11B)
G50S (p.Gly50Ser) in BCL11B (B-cell lymphoma/leukemia 11B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
G50S (p.Gly50Ser) variant details
- p.Gly50Ser
- gnomAD rs1889213565
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- REVEL 0.18
- CADD 23.70
- PolyPhen-2 0.99
- SIFT 0.33
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available