V131M (p.Val131Met) variant of LRBA (P50851)
V131M (p.Val131Met) in LRBA (P50851) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and published literature.
V131M (p.Val131Met) variant details
- p.Val131Met
- rs1475786670
- gnomAD 4-150265812-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- CADD 17.50
- SIFT 0.06
- Population evidence available
- Literature evidence available