P112A (p.Pro112Ala) variant of BCL11B (B-cell lymphoma/leukemia 11B)
P112A (p.Pro112Ala) in BCL11B (B-cell lymphoma/leukemia 11B) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.43 / 1. The record also includes population frequency data and structural context.
P112A (p.Pro112Ala) variant details
- p.Pro112Ala
- rs1477343612
- ClinVar RCV004594826
- TOPMed rs1477343612
- gnomAD rs1477343612
- Uncertain significance
- Intellectual developmental disorder with speech delay, dysmorphic facies, and t
- Missense
- Variant Prioritization Score for Impact Estimate 0.43
- REVEL 0.26
- AlphaMissense 0.19
- MetaLR 0.18
- MetaSVM -0.80
- CADD 23.60
- PolyPhen-2 0.31
- ClinVar: Uncertain significance (Intellectual developmental disorder with speech delay, dysmorphi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available