Y134C (p.Tyr134Cys) variant of MAP2K2 (P36507)
Y134C (p.Tyr134Cys) in MAP2K2 (P36507) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
Y134C (p.Tyr134Cys) variant details
- p.Tyr134Cys
- rs727504370
- ClinGen CA180890
- NCI-TCGA Cosmic COSV5356
- cosmic curated COSV53564
- Likely pathogenic
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.845
- REVEL 0.97
- CADD 31.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (RASopathy)
- EBI: Pathogenic (in CFC4)
- UniProt: Pathogenic (in CFC4)
- Population evidence available
- Structural context available
- Cited in: Cardiofaciocutaneous Syndrome. (PMID 20301365)
- Cited in: Noonan Syndrome. (PMID 20301303)