K69E (p.Lys69Glu) variant of MCCC1 (Q96RQ3)
K69E (p.Lys69Glu) in MCCC1 (Q96RQ3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
K69E (p.Lys69Glu) variant details
- p.Lys69Glu
- rs147741073
- ClinVar RCV004586312
- ClinVar RCV005610697
- ESP rs147741073
- Uncertain significance
- not specified
- Missense
- 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
- ClinVar: Uncertain significance (not specified)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available