A56D (p.Ala56Asp) variant of MAP2K2 (P36507)
A56D (p.Ala56Asp) in MAP2K2 (P36507) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Cardiofaciocutaneous syndrome 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes published literature and structural context.
A56D (p.Ala56Asp) variant details
- p.Ala56Asp
- rs2145080530
- ClinGen CA403392743
- ClinVar RCV003152996
- Ensembl rs2145080530
- Likely pathogenic
- Cardiofaciocutaneous syndrome 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.596
- AlphaMissense 0.40
- MetaLR 0.76
- MetaSVM 0.45
- PolyPhen-2 0.90
- SIFT 0.27
- EVE 0.13
- ClinVar: Likely pathogenic (Cardiofaciocutaneous syndrome 4)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Cardiofaciocutaneous Syndrome. (PMID 20301365)