G19V (p.Gly19Val) variant of LRBA (P50851)
G19V (p.Gly19Val) in LRBA (P50851) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data.
G19V (p.Gly19Val) variant details
- p.Gly19Val
- gnomAD rs1443076037
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- MetaLR 0.19
- MetaSVM -0.97
- CADD 23.50
- PolyPhen-2 0.35
- SIFT 0.00
- Most common in the South Asian population (allele frequency 2.3e-05)