R6S (p.Arg6Ser) variant of MTHFR (P42898)
R6S (p.Arg6Ser) in MTHFR (P42898) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
R6S (p.Arg6Ser) variant details
- p.Arg6Ser
- ExAC rs748686763
- TOPMed rs748686763
- gnomAD rs748686763
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- REVEL 0.21
- CADD 12.80
- PolyPhen-2 0.00
- SIFT 0.21
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available