K4E (p.Lys4Glu) variant of MMACHC (Q9Y4U1)
K4E (p.Lys4Glu) in MMACHC (Q9Y4U1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
K4E (p.Lys4Glu) variant details
- p.Lys4Glu
- gnomAD 1-45500342-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- REVEL 0.20
- MetaLR 0.65
- MetaSVM -0.24
- CADD 11.20
- PolyPhen-2 0.00
- SIFT 0.71
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available