A108V (p.Ala108Val) variant of LRBA (P50851)
A108V (p.Ala108Val) in LRBA (P50851) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data.
A108V (p.Ala108Val) variant details
- p.Ala108Val
- Ensembl rs1734169296
- Missense
- Variant Prioritization Score for Impact Estimate 0.655
- MetaLR 0.35
- MetaSVM -0.59
- CADD 27.20
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available