L80P (p.Leu80Pro) variant of LRBA (P50851)
L80P (p.Leu80Pro) in LRBA (P50851) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data.
L80P (p.Leu80Pro) variant details
- p.Leu80Pro
- gnomAD rs1211273094
- Missense
- Variant Prioritization Score for Impact Estimate 0.562
- MetaLR 0.35
- MetaSVM -0.41
- CADD 27.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)