V131A (p.Val131Ala) variant of LRBA (P50851)
V131A (p.Val131Ala) 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 0.47 / 1. The record also includes population frequency data.
V131A (p.Val131Ala) variant details
- p.Val131Ala
- rs770434240
- ClinGen CA3103891
- ClinVar RCV001338484
- ExAC rs770434240
- Uncertain significance
- Combined immunodeficiency due to LRBA deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- MetaLR 0.26
- MetaSVM -0.73
- CADD 24.10
- PolyPhen-2 0.99
- SIFT 0.03
- ClinVar: Uncertain significance (Combined immunodeficiency due to LRBA deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available