T15M (p.Thr15Met) variant of MMACHC (Q9Y4U1)
T15M (p.Thr15Met) in MMACHC (Q9Y4U1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
T15M (p.Thr15Met) variant details
- p.Thr15Met
- ExAC rs765601770
- gnomAD rs765601770
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- REVEL 0.25
- CADD 21.00
- PolyPhen-2 0.77
- SIFT 0.16
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available