D28N (p.Asp28Asn) variant of MTHFR (P42898)
D28N (p.Asp28Asn) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
D28N (p.Asp28Asn) variant details
- p.Asp28Asn
- rs2100578318
- ClinGen CA338423206
- ClinVar RCV001758102
- Ensembl rs2100578318
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.27
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.25
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available