P13S (p.Pro13Ser) variant of LRBA (P50851)
P13S (p.Pro13Ser) in LRBA (P50851) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data.
P13S (p.Pro13Ser) variant details
- p.Pro13Ser
- ExAC rs759669268
- TOPMed rs759669268
- gnomAD rs759669268
- Missense
- Variant Prioritization Score for Impact Estimate 0.573
- MetaLR 0.36
- MetaSVM -0.80
- CADD 24.50
- PolyPhen-2 1.00
- SIFT 0.05
- Most common in the South Asian population (allele frequency 1.2e-05)