C128Y (p.Cys128Tyr) variant of LRBA (P50851)
C128Y (p.Cys128Tyr) in LRBA (P50851) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data.
C128Y (p.Cys128Tyr) variant details
- p.Cys128Tyr
- gnomAD rs1330562330
- Missense
- Variant Prioritization Score for Impact Estimate 0.549
- MetaLR 0.45
- MetaSVM -0.13
- CADD 25.60
- PolyPhen-2 0.88
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)