G30A (p.Gly30Ala) variant of LRBA (P50851)
G30A (p.Gly30Ala) in LRBA (P50851) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Combined immunodeficiency due to LRBA deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data.
G30A (p.Gly30Ala) variant details
- p.Gly30Ala
- rs754377116
- ClinGen CA3103972
- cosmic curated COSV63958
- ClinVar RCV000805654
- Uncertain significance
- not provided; Combined immunodeficiency due to LRBA deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.203
- MetaLR 0.08
- MetaSVM -0.97
- CADD 5.04
- PolyPhen-2 0.00
- SIFT 0.05
- ClinVar: Uncertain significance (not provided; Combined immunodeficiency due to LRBA deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 5e-05)