L28V (p.Leu28Val) variant of BCL2L11 (Bcl-2-like protein 11)
L28V (p.Leu28Val) in BCL2L11 (Bcl-2-like protein 11) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
L28V (p.Leu28Val) variant details
- p.Leu28Val
- ExAC rs766299103
- TOPMed rs766299103
- gnomAD rs766299103
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- REVEL 0.16
- MetaLR 0.26
- MetaSVM -0.50
- CADD 23.70
- PolyPhen-2 0.99
- SIFT 0.07
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available