G31S (p.Gly31Ser) variant of LRBA (P50851)
G31S (p.Gly31Ser) in LRBA (P50851) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data.
G31S (p.Gly31Ser) variant details
- p.Gly31Ser
- ExAC rs751125528
- TOPMed rs751125528
- gnomAD rs751125528
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- MetaLR 0.14
- MetaSVM -1.02
- CADD 12.60
- PolyPhen-2 0.00
- SIFT 0.15
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00017)