E67V (p.Glu67Val) variant of LRBA (P50851)
E67V (p.Glu67Val) in LRBA (P50851) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data.
E67V (p.Glu67Val) variant details
- p.Glu67Val
- gnomAD rs1745203692
- Missense
- Variant Prioritization Score for Impact Estimate 0.54
- MetaLR 0.28
- MetaSVM -0.49
- CADD 25.90
- PolyPhen-2 0.78
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)