E22K (p.Glu22Lys) variant of MMACHC (Q9Y4U1)
E22K (p.Glu22Lys) in MMACHC (Q9Y4U1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data and structural context.
E22K (p.Glu22Lys) variant details
- p.Glu22Lys
- gnomAD rs1478779847
- Missense
- Variant Prioritization Score for Impact Estimate 0.891
- REVEL 0.94
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available