W111* (p.Trp111Ter) variant of LRBA (P50851)
W111* (p.Trp111Ter) in LRBA (P50851) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and published literature.
W111* (p.Trp111Ter) variant details
- p.Trp111Ter
- rs1269821586
- gnomAD 4-150265799-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.649
- MetaLR 0.23
- MetaSVM -0.74
- CADD 28.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Literature evidence available