P124A (p.Pro124Ala) variant of MAP2K1 (Q02750)
P124A (p.Pro124Ala) in MAP2K1 (Q02750) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Cardiofaciocutaneous syndrome 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes published literature and structural context.
P124A (p.Pro124Ala) variant details
- p.Pro124Ala
- rs1057519732
- ClinGen CA392930702
- ClinVar RCV002267695
- Ensembl rs1057519732
- Likely pathogenic
- Cardiofaciocutaneous syndrome 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.601
- AlphaMissense 0.97
- MetaLR 0.51
- MetaSVM 0.13
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.70
- ClinVar: Likely pathogenic (Cardiofaciocutaneous syndrome 3)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Cardiofaciocutaneous Syndrome. (PMID 20301365)