N71H (p.Asn71His) variant of LRBA (P50851)
N71H (p.Asn71His) in LRBA (P50851) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data.
N71H (p.Asn71His) variant details
- p.Asn71His
- TOPMed rs1346748244
- Missense
- Variant Prioritization Score for Impact Estimate 0.538
- MetaLR 0.30
- MetaSVM -0.51
- CADD 24.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)