E111K (p.Glu111Lys) variant of MCCC1 (Q96RQ3)
E111K (p.Glu111Lys) in MCCC1 (Q96RQ3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
E111K (p.Glu111Lys) variant details
- p.Glu111Lys
- ESP rs149905883
- TOPMed rs149905883
- gnomAD rs149905883
- Missense
- Variant Prioritization Score for Impact Estimate 0.677
- REVEL 0.69
- CADD 24.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available