G15A (p.Gly15Ala) variant of LRBA (P50851)
G15A (p.Gly15Ala) in LRBA (P50851) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Combined immunodeficiency due to LRBA deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data.
G15A (p.Gly15Ala) variant details
- p.Gly15Ala
- gnomAD rs1469892499
- Uncertain significance
- Combined immunodeficiency due to LRBA deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.54
- MetaLR 0.17
- MetaSVM -0.86
- CADD 23.70
- PolyPhen-2 0.54
- SIFT 0.06
- ClinVar: Uncertain significance (Combined immunodeficiency due to LRBA deficiency)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)