Q42K (p.Gln42Lys) variant of MMAA (Q8IVH4)
Q42K (p.Gln42Lys) in MMAA (Q8IVH4) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes structural context.
Q42K (p.Gln42Lys) variant details
- p.Gln42Lys
- ExAC rs758345818
- gnomAD rs758345818
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- ESM-1b 0.00
- AlphaMissense 0.07
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available