V74I (p.Val74Ile) variant of LRBA (P50851)
V74I (p.Val74Ile) in LRBA (P50851) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data.
V74I (p.Val74Ile) variant details
- p.Val74Ile
- TOPMed rs1185812074
- gnomAD rs1185812074
- Missense
- Variant Prioritization Score for Impact Estimate 0.667
- MetaLR 0.48
- MetaSVM -0.08
- CADD 24.60
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)