E90D (p.Glu90Asp) variant of LRBA (P50851)
E90D (p.Glu90Asp) in LRBA (P50851) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data.
E90D (p.Glu90Asp) variant details
- p.Glu90Asp
- ExAC rs761129328
- gnomAD rs761129328
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- MetaLR 0.22
- MetaSVM -0.85
- CADD 22.70
- PolyPhen-2 0.97
- SIFT 0.04
- Most common in the East Asian population (allele frequency 2.5e-05)