M82I (p.Met82Ile) variant of LRBA (P50851)
M82I (p.Met82Ile) 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 0.61 / 1. The record also includes population frequency data.
M82I (p.Met82Ile) variant details
- p.Met82Ile
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.615
- MetaLR 0.31
- MetaSVM -0.70
- CADD 23.20
- PolyPhen-2 0.09
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)