K4T (p.Lys4Thr) variant of MMACHC (Q9Y4U1)
K4T (p.Lys4Thr) in MMACHC (Q9Y4U1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
K4T (p.Lys4Thr) variant details
- p.Lys4Thr
- TOPMed rs1204198077
- gnomAD rs1204198077
- Missense
- Variant Prioritization Score for Impact Estimate 0.19
- REVEL 0.27
- CADD 2.95
- PolyPhen-2 0.00
- SIFT 0.24
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available