E109V (p.Glu109Val) variant of LRBA (P50851)
E109V (p.Glu109Val) in LRBA (P50851) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data.
E109V (p.Glu109Val) variant details
- p.Glu109Val
- gnomAD rs1318863995
- Missense
- Variant Prioritization Score for Impact Estimate 0.575
- MetaLR 0.41
- MetaSVM -0.28
- CADD 28.40
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)