E88A (p.Glu88Ala) variant of LRBA (P50851)
E88A (p.Glu88Ala) in LRBA (P50851) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data.
E88A (p.Glu88Ala) variant details
- p.Glu88Ala
- Ensembl rs1561019477
- Missense
- Variant Prioritization Score for Impact Estimate 0.551
- MetaLR 0.27
- MetaSVM -0.66
- CADD 29.50
- PolyPhen-2 0.32
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)