G20D (p.Gly20Asp) variant of LRBA (P50851)
G20D (p.Gly20Asp) in LRBA (P50851) is a missense change. Clinical records from ClinVar, EBI, 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 0.65 / 1. The record also includes population frequency data.
G20D (p.Gly20Asp) variant details
- p.Gly20Asp
- gnomAD rs1745223311
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.654
- MetaLR 0.34
- MetaSVM -0.84
- CADD 26.50
- PolyPhen-2 0.92
- SIFT 0.02
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)