Q77R (p.Gln77Arg) variant of LRBA (P50851)
Q77R (p.Gln77Arg) 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.
Q77R (p.Gln77Arg) variant details
- p.Gln77Arg
- cosmic curated COSV10084
- TOPMed rs1254379836
- gnomAD rs1254379836
- Missense
- Variant Prioritization Score for Impact Estimate 0.517
- MetaLR 0.23
- MetaSVM -0.74
- CADD 24.40
- PolyPhen-2 0.30
- SIFT 0.04
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)