S10F (p.Ser10Phe) variant of LRBA (P50851)
S10F (p.Ser10Phe) in LRBA (P50851) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data.
S10F (p.Ser10Phe) variant details
- p.Ser10Phe
- NCI-TCGA TCGA novel
- TOPMed rs1745228955
- gnomAD rs1745228955
- Variant assessed as somatic; high impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.523
- MetaLR 0.12
- MetaSVM -0.89
- CADD 24.60
- PolyPhen-2 0.16
- SIFT 0.03
- UniProt: Variant assessed as somatic; high impact.
- Most common in the African/African-American population (allele frequency 2.4e-05)