E4K (p.Glu4Lys) variant of LRBA (P50851)
E4K (p.Glu4Lys) in LRBA (P50851) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data.
E4K (p.Glu4Lys) variant details
- p.Glu4Lys
- TOPMed rs1579509364
- Missense
- Variant Prioritization Score for Impact Estimate 0.541
- MetaLR 0.18
- MetaSVM -0.72
- CADD 24.70
- PolyPhen-2 0.31
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)