E207K (p.Glu207Lys) variant of MAP2K2 (P36507)
E207K (p.Glu207Lys) in MAP2K2 (P36507) 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 0.52 / 1. The record also includes published literature and structural context.
E207K (p.Glu207Lys) variant details
- p.Glu207Lys
- rs727504382
- ClinGen CA180944
- NCI-TCGA Cosmic COSV5356
- cosmic curated COSV53562
- Likely pathogenic
- Cardio-facio-cutaneous syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.515
- AlphaMissense 0.99
- MetaLR 0.34
- MetaSVM -0.33
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.74
- ClinVar: Likely pathogenic (Cardio-facio-cutaneous syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Cardiofaciocutaneous Syndrome. (PMID 20301365)
- Cited in: Noonan Syndrome. (PMID 20301303)