T124S (p.Thr124Ser) variant of MTHFR (P42898)
T124S (p.Thr124Ser) in MTHFR (P42898) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
T124S (p.Thr124Ser) variant details
- p.Thr124Ser
- ExAC rs768248826
- gnomAD rs768248826
- Missense
- Variant Prioritization Score for Impact Estimate 0.568
- REVEL 0.54
- CADD 22.90
- PolyPhen-2 0.34
- SIFT 0.15
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available