V66G (p.Val66Gly) variant of LRBA (P50851)
V66G (p.Val66Gly) in LRBA (P50851) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data.
V66G (p.Val66Gly) variant details
- p.Val66Gly
- 1000Genomes rs555229581
- ExAC rs555229581
- TOPMed rs555229581
- gnomAD rs555229581
- Missense
- Variant Prioritization Score for Impact Estimate 0.59
- MetaLR 0.44
- MetaSVM -0.04
- CADD 30.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the 1KG:BEB population (allele frequency 0.0051)