E135K (p.Glu135Lys) variant of LRBA (P50851)
E135K (p.Glu135Lys) in LRBA (P50851) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data.
E135K (p.Glu135Lys) variant details
- p.Glu135Lys
- gnomAD rs1344887835
- Missense
- Variant Prioritization Score for Impact Estimate 0.62
- MetaLR 0.25
- MetaSVM -0.85
- CADD 24.30
- PolyPhen-2 0.45
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)