L39H (p.Leu39His) variant of LRBA (P50851)
L39H (p.Leu39His) in LRBA (P50851) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data.
L39H (p.Leu39His) variant details
- p.Leu39His
- TOPMed rs1345711760
- gnomAD rs1345711760
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.522
- MetaLR 0.19
- MetaSVM -0.77
- CADD 25.40
- PolyPhen-2 0.59
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)