Q46L (p.Gln46Leu) variant of MAP2K1 (Q02750)
Q46L (p.Gln46Leu) in MAP2K1 (Q02750) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Cardio-facio-cutaneous syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes published literature and structural context.
Q46L (p.Gln46Leu) variant details
- p.Gln46Leu
- rs1595860875
- ClinGen CA392929105
- ClinVar RCV000824934
- Ensembl rs1595860875
- Likely pathogenic
- Cardio-facio-cutaneous syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.785
- AlphaMissense 0.98
- MetaLR 0.87
- MetaSVM 0.82
- PolyPhen-2 0.74
- SIFT 0.02
- MutPred 0.29
- ClinVar: Likely pathogenic (Cardio-facio-cutaneous syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Cardiofaciocutaneous Syndrome. (PMID 20301365)