V55A (p.Val55Ala) variant of LRBA (P50851)
V55A (p.Val55Ala) in LRBA (P50851) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data.
V55A (p.Val55Ala) variant details
- p.Val55Ala
- gnomAD rs1173521721
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- MetaLR 0.25
- MetaSVM -0.58
- CADD 24.60
- PolyPhen-2 0.51
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)