G58R (p.Gly58Arg) variant of LRBA (P50851)
G58R (p.Gly58Arg) in LRBA (P50851) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data.
G58R (p.Gly58Arg) variant details
- p.Gly58Arg
- ExAC rs776087813
- gnomAD rs776087813
- Missense
- Variant Prioritization Score for Impact Estimate 0.678
- MetaLR 0.42
- MetaSVM -0.38
- CADD 28.50
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)