N12K (p.Asn12Lys) variant of MTHFR (P42898)
N12K (p.Asn12Lys) in MTHFR (P42898) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Homocystinuria due to methylene tetrahydrofolate reductase deficie. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
N12K (p.Asn12Lys) variant details
- p.Asn12Lys
- rs1046343781
- ClinGen CA17975344
- ClinVar RCV003104214
- ClinVar RCV003313312
- Uncertain significance
- not provided; Homocystinuria due to methylene tetrahydrofolate reductase deficie
- Missense
- Variant Prioritization Score for Impact Estimate 0.146
- REVEL 0.19
- CADD 1.79
- PolyPhen-2 0.01
- SIFT 0.91
- ClinVar: Uncertain significance (not provided; Homocystinuria due to methylene tetrahydrofolate r)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available