K69* (p.Lys69Ter) variant of MCCC1 (Q96RQ3)
K69* (p.Lys69Ter) in MCCC1 (Q96RQ3) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes structural context.
K69* (p.Lys69Ter) variant details
- p.Lys69Ter
- rs147741073
- ClinGen CA275186
- ClinVar RCV000177314
- ESP rs147741073
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.668
- AlphaMissense 0.17
- MetaLR 0.91
- MetaSVM 0.94
- PolyPhen-2 0.68
- SIFT 0.01
- EVE 0.35
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available