S10N (p.Ser10Asn) variant of MTHFR (P42898)
S10N (p.Ser10Asn) in MTHFR (P42898) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
S10N (p.Ser10Asn) variant details
- p.Ser10Asn
- 1000Genomes rs143428827
- ESP rs143428827
- ExAC rs143428827
- TOPMed rs143428827
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.25
- CADD 14.00
- PolyPhen-2 0.04
- SIFT 0.27
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available