N308D (p.Asn308Asp) variant of PTPN11 (Q06124)
N308D (p.Asn308Asp) 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 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
N308D (p.Asn308Asp) variant details
- p.Asn308Asp
- rs28933386
- ClinGen CA220158
- NCI-TCGA Cosmic COSV6100
- cosmic curated COSV61006
- Pathogenic
- Noonan syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.737
- REVEL 0.84
- CADD 24.50
- PolyPhen-2 0.13
- SIFT 0.03
- ClinVar: Pathogenic (Noonan syndrome)
- EBI: Pathogenic (in NS1)
- UniProt: Pathogenic (in NS1)
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- 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)