Q105K (p.Gln105Lys) variant of MCCC1 (Q96RQ3)
Q105K (p.Gln105Lys) in MCCC1 (Q96RQ3) 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 0.54 / 1. The record also includes population frequency data and structural context.
Q105K (p.Gln105Lys) variant details
- p.Gln105Lys
- TOPMed rs1163620394
- gnomAD rs1163620394
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.544
- REVEL 0.60
- CADD 22.20
- PolyPhen-2 0.40
- SIFT 0.06
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available