D17V (p.Asp17Val) variant of LRBA (P50851)
D17V (p.Asp17Val) 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.
D17V (p.Asp17Val) variant details
- p.Asp17Val
- TOPMed rs1318944382
- gnomAD rs1318944382
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- MetaLR 0.12
- MetaSVM -1.02
- CADD 22.20
- PolyPhen-2 0.12
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)