T15A (p.Thr15Ala) variant of MMACHC (Q9Y4U1)
T15A (p.Thr15Ala) in MMACHC (Q9Y4U1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
T15A (p.Thr15Ala) variant details
- p.Thr15Ala
- TOPMed rs1352943462
- gnomAD rs1352943462
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.22
- CADD 17.20
- PolyPhen-2 0.00
- SIFT 0.69
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available