P27L (p.Pro27Leu) variant of LRBA (P50851)
P27L (p.Pro27Leu) in LRBA (P50851) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data.
P27L (p.Pro27Leu) variant details
- p.Pro27Leu
- TOPMed rs938367671
- gnomAD rs938367671
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- MetaLR 0.13
- MetaSVM -1.02
- CADD 21.00
- PolyPhen-2 0.01
- SIFT 0.10
- Most common in the South Asian population (allele frequency 1.2e-05)