I92V (p.Ile92Val) variant of LRBA (P50851)
I92V (p.Ile92Val) 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.
I92V (p.Ile92Val) variant details
- p.Ile92Val
- TOPMed rs1734175972
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- MetaLR 0.32
- MetaSVM -0.65
- CADD 22.80
- PolyPhen-2 0.14
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 7.2e-06)