Q87R (p.Gln87Arg) variant of LRBA (P50851)
Q87R (p.Gln87Arg) in LRBA (P50851) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data.
Q87R (p.Gln87Arg) variant details
- p.Gln87Arg
- ESP rs376575149
- ExAC rs376575149
- TOPMed rs376575149
- gnomAD rs376575149
- Missense
- Variant Prioritization Score for Impact Estimate 0.536
- MetaLR 0.30
- MetaSVM -0.62
- CADD 24.30
- PolyPhen-2 0.85
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)