N52D (p.Asn52Asp) variant of BUB1B (O60566)
N52D (p.Asn52Asp) in BUB1B (O60566) is a missense change. Clinical records from ClinVar 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 0.18 / 1. The record also includes population frequency data and structural context.
N52D (p.Asn52Asp) variant details
- p.Asn52Asp
- Ensembl rs1271543867
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.183
- REVEL 0.04
- MetaLR 0.02
- MetaSVM -1.00
- CADD 20.10
- PolyPhen-2 0.08
- SIFT 0.26
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available