S3R (p.Ser3Arg) variant of LRBA (P50851)
S3R (p.Ser3Arg) in LRBA (P50851) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data.
S3R (p.Ser3Arg) variant details
- p.Ser3Arg
- ExAC rs760789351
- TOPMed rs760789351
- gnomAD rs760789351
- Missense
- Variant Prioritization Score for Impact Estimate 0.235
- MetaLR 0.20
- MetaSVM -0.92
- CADD 20.50
- PolyPhen-2 0.01
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)