N83I (p.Asn83Ile) variant of LRBA (P50851)
N83I (p.Asn83Ile) 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.
N83I (p.Asn83Ile) variant details
- p.Asn83Ile
- Ensembl rs1734178213
- Missense
- Variant Prioritization Score for Impact Estimate 0.552
- MetaLR 0.35
- MetaSVM -0.40
- CADD 27.00
- SIFT 0.00
- Most common in the HGDP:HAN population (allele frequency 0.015)