D145N (p.Asp145Asn) variant of LRBA (P50851)
D145N (p.Asp145Asn) in LRBA (P50851) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data.
D145N (p.Asp145Asn) variant details
- p.Asp145Asn
- gnomAD rs1415202928
- Missense
- Variant Prioritization Score for Impact Estimate 0.561
- MetaLR 0.27
- MetaSVM -0.57
- CADD 24.60
- PolyPhen-2 0.65
- SIFT 0.02
- Most common in the East Asian population (allele frequency 2.5e-05)