K11N (p.Lys11Asn) variant of MMACHC (Q9Y4U1)
K11N (p.Lys11Asn) in MMACHC (Q9Y4U1) 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 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
K11N (p.Lys11Asn) variant details
- p.Lys11Asn
- rs770446383
- ClinGen CA340128477
- ClinVar RCV003277098
- ExAC rs770446383
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- REVEL 0.26
- CADD 22.70
- PolyPhen-2 0.09
- SIFT 0.11
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.7e-05)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)