T68A (p.Thr68Ala) variant of LRBA (P50851)
T68A (p.Thr68Ala) 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.
T68A (p.Thr68Ala) variant details
- p.Thr68Ala
- ExAC rs751829504
- TOPMed rs751829504
- gnomAD rs751829504
- Missense
- Variant Prioritization Score for Impact Estimate 0.551
- MetaLR 0.28
- MetaSVM -0.67
- CADD 27.30
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the South Asian population (allele frequency 0.00015)