D17G (p.Asp17Gly) variant of LRBA (P50851)
D17G (p.Asp17Gly) in LRBA (P50851) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data.
D17G (p.Asp17Gly) variant details
- p.Asp17Gly
- TOPMed rs1318944382
- gnomAD rs1318944382
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- MetaLR 0.09
- MetaSVM -1.03
- CADD 21.20
- PolyPhen-2 0.00
- SIFT 0.52
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)