I282V (p.Ile282Val) variant of PTPN11 (Q06124)
I282V (p.Ile282Val) in PTPN11 (Q06124) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Noonan syndrome and Noonan-related syndrome; PTPN11-related disorder; Neurodevel. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
I282V (p.Ile282Val) variant details
- p.Ile282Val
- rs397507529
- ClinGen CA220152
- cosmic curated COSV61011
- ClinVar RCV000033505
- Pathogenic
- Noonan syndrome and Noonan-related syndrome; PTPN11-related disorder; Neurodevel
- Missense
- Variant Prioritization Score for Impact Estimate 0.535
- REVEL 0.53
- MetaLR 0.51
- MetaSVM -0.04
- CADD 23.70
- PolyPhen-2 0.05
- SIFT 0.00
- ClinVar: Pathogenic (Noonan syndrome and Noonan-related syndrome; PTPN11-related diso)
- EBI: Pathogenic (in NS1)
- UniProt: Pathogenic (in NS1)
- Most common in the Latino/Admixed American population (allele frequency 6.5e-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)