P124L (p.Pro124Leu) variant of MAP2K1 (Q02750)
P124L (p.Pro124Leu) in MAP2K1 (Q02750) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Cardio-facio-cutaneous syndrome; Noonan syndrome and Noonan-related syndrome; Ca. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
P124L (p.Pro124Leu) variant details
- p.Pro124Leu
- rs397516792
- ClinGen CA279996
- NCI-TCGA Cosmic COSV6106
- Pathogenic/Likely pathogenic
- Cardio-facio-cutaneous syndrome; Noonan syndrome and Noonan-related syndrome; Ca
- Missense
- Variant Prioritization Score for Impact Estimate 0.869
- AlphaMissense 0.98
- MetaLR 0.92
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.61
- ClinVar: Pathogenic/Likely pathogenic (Cardio-facio-cutaneous syndrome; Noonan syndrome and Noonan-rela)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Cardiofaciocutaneous Syndrome. (PMID 20301365)