S23N (p.Ser23Asn) variant of MTHFR (P42898)
S23N (p.Ser23Asn) in MTHFR (P42898) is a missense change. 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.
S23N (p.Ser23Asn) variant details
- p.Ser23Asn
- ExAC rs777286995
- TOPMed rs777286995
- gnomAD rs777286995
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.26
- CADD 17.10
- PolyPhen-2 0.02
- SIFT 0.53
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available