F78L (p.Phe78Leu) variant of LRBA (P50851)
F78L (p.Phe78Leu) in LRBA (P50851) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data.
F78L (p.Phe78Leu) variant details
- p.Phe78Leu
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- MetaLR 0.51
- MetaSVM 0.09
- CADD 29.00
- PolyPhen-2 0.99
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 1.7e-05)