T34S (p.Thr34Ser) variant of MTHFR (P42898)
T34S (p.Thr34Ser) in MTHFR (P42898) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
T34S (p.Thr34Ser) variant details
- p.Thr34Ser
- ExAC rs759381630
- gnomAD rs759381630
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- REVEL 0.29
- CADD 20.40
- PolyPhen-2 0.01
- SIFT 0.38
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available