M504V (p.Met504Val) variant of PTPN11 (Q06124)
M504V (p.Met504Val) in PTPN11 (Q06124) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Noonan syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
M504V (p.Met504Val) variant details
- p.Met504Val
- rs397507547
- ClinGen CA220140
- NCI-TCGA Cosmic COSV6101
- cosmic curated COSV61012
- Pathogenic
- Noonan syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.819
- REVEL 0.94
- CADD 27.10
- PolyPhen-2 0.93
- SIFT 0.00
- ClinVar: Pathogenic (Noonan syndrome)
- EBI: Pathogenic (in NS1)
- UniProt: Pathogenic (in NS1)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. (PMID 11704759)
- Cited in: PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. (PMID 11992261)