N56K (p.Asn56Lys) variant of MCCC1 (Q96RQ3)
N56K (p.Asn56Lys) in MCCC1 (Q96RQ3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
N56K (p.Asn56Lys) variant details
- p.Asn56Lys
- rs1057520695
- ClinGen CA16604839
- ClinVar RCV000441741
- ClinVar RCV003330667
- Conflicting interpretations
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.701
- REVEL 0.88
- CADD 25.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided)
- EBI: Pathogenic (in MCC1D)
- UniProt: Pathogenic (in MCC1D)
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: A single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase… (PMID 22264772)
- Cited in: 3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals. (PMID 22642865)