K11T (p.Lys11Thr) variant of MMACHC (Q9Y4U1)
K11T (p.Lys11Thr) in MMACHC (Q9Y4U1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
K11T (p.Lys11Thr) variant details
- p.Lys11Thr
- gnomAD 1-45500364-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.22
- MetaLR 0.65
- MetaSVM -0.03
- CADD 21.50
- PolyPhen-2 0.12
- SIFT 0.25
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available