C94F (p.Cys94Phe) variant of LRBA (P50851)
C94F (p.Cys94Phe) 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 0.64 / 1. The record also includes population frequency data.
C94F (p.Cys94Phe) variant details
- p.Cys94Phe
- rs771839194
- ClinGen CA3103912
- ClinVar RCV000702343
- ClinVar RCV001766541
- Uncertain significance
- not provided; Combined immunodeficiency due to LRBA deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.637
- MetaLR 0.34
- MetaSVM -0.63
- CADD 23.50
- PolyPhen-2 0.90
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Combined immunodeficiency due to LRBA deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)