V64G (p.Val64Gly) variant of MAP2K2 (P36507)
V64G (p.Val64Gly) 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 0.63 / 1. The record also includes published literature and structural context.
V64G (p.Val64Gly) variant details
- p.Val64Gly
- rs1135401787
- ClinGen CA403392664
- ClinVar RCV000496536
- gnomAD rs1135401787
- Likely pathogenic
- Cardiofaciocutaneous syndrome 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.629
- AlphaMissense 0.72
- MetaLR 0.70
- MetaSVM 0.50
- PolyPhen-2 0.77
- SIFT 0.00
- EVE 0.33
- ClinVar: Likely pathogenic (Cardiofaciocutaneous syndrome 4)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Cardiofaciocutaneous Syndrome. (PMID 20301365)