E60K (p.Glu60Lys) variant of MMADHC (Q9H3L0)
E60K (p.Glu60Lys) in MMADHC (Q9H3L0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
E60K (p.Glu60Lys) variant details
- p.Glu60Lys
- TOPMed rs1181724331
- gnomAD rs1181724331
- Missense
- Variant Prioritization Score for Impact Estimate 0.617
- REVEL 0.60
- CADD 23.40
- PolyPhen-2 0.22
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available