T52N (p.Thr52Asn) variant of LRBA (P50851)
T52N (p.Thr52Asn) in LRBA (P50851) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data.
T52N (p.Thr52Asn) variant details
- p.Thr52Asn
- ExAC rs770012357
- gnomAD rs770012357
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- MetaLR 0.14
- MetaSVM -0.92
- CADD 22.70
- PolyPhen-2 0.12
- SIFT 0.00
- Most common in the East Asian population (allele frequency 0.00019)