N12D (p.Asn12Asp) variant of MTHFR (P42898)
N12D (p.Asn12Asp) in MTHFR (P42898) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
N12D (p.Asn12Asp) variant details
- p.Asn12Asp
- gnomAD rs1644428324
- Missense
- Variant Prioritization Score for Impact Estimate 0.18
- REVEL 0.25
- CADD 0.16
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available