R7S (p.Arg7Ser) variant of LRBA (P50851)
R7S (p.Arg7Ser) in LRBA (P50851) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data.
R7S (p.Arg7Ser) variant details
- p.Arg7Ser
- TOPMed rs1163553946
- gnomAD rs1163553946
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.516
- MetaLR 0.07
- MetaSVM -1.03
- CADD 20.20
- PolyPhen-2 0.00
- SIFT 0.05
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)