P37L (p.Pro37Leu) variant of LRBA (P50851)
P37L (p.Pro37Leu) in LRBA (P50851) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data.
P37L (p.Pro37Leu) variant details
- p.Pro37Leu
- ExAC rs764896354
- gnomAD rs764896354
- Missense
- Variant Prioritization Score for Impact Estimate 0.591
- MetaLR 0.48
- MetaSVM -0.00
- CADD 24.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)