N53D (p.Asn53Asp) variant of BUB1B (O60566)
N53D (p.Asn53Asp) in BUB1B (O60566) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
N53D (p.Asn53Asp) variant details
- p.Asn53Asp
- gnomAD rs2037081144
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.202
- REVEL 0.09
- MetaLR 0.02
- MetaSVM -1.00
- CADD 21.20
- SIFT 1.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available