N146S (p.Asn146Ser) variant of LRBA (P50851)
N146S (p.Asn146Ser) in LRBA (P50851) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data.
N146S (p.Asn146Ser) variant details
- p.Asn146Ser
- TOPMed rs1413819149
- gnomAD rs1413819149
- Missense
- Variant Prioritization Score for Impact Estimate 0.119
- MetaLR 0.05
- MetaSVM -0.98
- CADD 1.25
- PolyPhen-2 0.00
- SIFT 0.47
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)