N71K (p.Asn71Lys) variant of ALDOB (Fructose-bisphosphate aldolase B)
N71K (p.Asn71Lys) in ALDOB (Fructose-bisphosphate aldolase B) 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 0.45 / 1. The record also includes population frequency data and structural context.
N71K (p.Asn71Lys) variant details
- p.Asn71Lys
- TOPMed rs1831191065
- gnomAD rs1831191065
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.45
- CADD 19.70
- PolyPhen-2 0.00
- SIFT 0.56
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available