A49V (p.Ala49Val) variant of LRBA (P50851)
A49V (p.Ala49Val) in LRBA (P50851) is a missense change. Clinical records from ClinVar, EBI, 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 0.67 / 1. The record also includes population frequency data.
A49V (p.Ala49Val) variant details
- p.Ala49Val
- rs766486585
- ClinGen CA358610859
- ClinVar RCV001867750
- ExAC rs766486585
- Uncertain significance
- Combined immunodeficiency due to LRBA deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.671
- MetaLR 0.38
- MetaSVM -0.35
- CADD 29.10
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (Combined immunodeficiency due to LRBA deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)