L125I (p.Leu125Ile) variant of LRBA (P50851)
L125I (p.Leu125Ile) in LRBA (P50851) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data.
L125I (p.Leu125Ile) variant details
- p.Leu125Ile
- cosmic curated COSV63956
- ESP rs376254392
- ExAC rs376254392
- TOPMed rs376254392
- Missense
- Variant Prioritization Score for Impact Estimate 0.649
- MetaLR 0.35
- MetaSVM -0.39
- CADD 26.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 3.3e-05)