I141V (p.Ile141Val) variant of LRBA (P50851)
I141V (p.Ile141Val) in LRBA (P50851) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and published literature.
I141V (p.Ile141Val) variant details
- p.Ile141Val
- gnomAD 4-150265773-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- CADD 6.11
- Most common in the African/African-American population (allele frequency 3e-05)
- Literature evidence available