A157V (p.Ala157Val) variant of BCL11B (B-cell lymphoma/leukemia 11B)
A157V (p.Ala157Val) in BCL11B (B-cell lymphoma/leukemia 11B) is a missense change. Clinical records from ClinVar and UniProt describe it as conflicting interpretations in the context of Intellectual developmental disorder with speech delay, dysmorphic facies, and t. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
A157V (p.Ala157Val) variant details
- p.Ala157Val
- TOPMed rs1360972265
- gnomAD rs1360972265
- Conflicting interpretations
- Intellectual developmental disorder with speech delay, dysmorphic facies, and t
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.15
- CADD 23.00
- PolyPhen-2 0.05
- SIFT 0.20
- ClinVar: Conflicting classifications of pathogenicity (Intellectual developmental disorder with speech delay, dysmorphi)
- UniProt: Conflicting interpretations
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available