N55K (p.Asn55Lys) variant of ALDOB (Fructose-bisphosphate aldolase B)
N55K (p.Asn55Lys) in ALDOB (Fructose-bisphosphate aldolase B) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
N55K (p.Asn55Lys) variant details
- p.Asn55Lys
- rs759273480
- NCI-TCGA Cosmic COSV1008
- cosmic curated COSV10087
- ExAC rs759273480
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.455
- CADD 23.50
- PolyPhen-2 0.78
- SIFT 0.03
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available