C94S (p.Cys94Ser) variant of LRBA (P50851)
C94S (p.Cys94Ser) 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 0.54 / 1. The record also includes population frequency data.
C94S (p.Cys94Ser) variant details
- p.Cys94Ser
- ExAC rs775229217
- TOPMed rs775229217
- gnomAD rs775229217
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.537
- MetaLR 0.33
- MetaSVM -0.52
- CADD 24.10
- PolyPhen-2 0.80
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 7.2e-05)