A72S (p.Ala72Ser) variant of PTPN11 (Q06124)
A72S (p.Ala72Ser) 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; Cardiovascular phenotype; LEOPARD s. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
A72S (p.Ala72Ser) variant details
- p.Ala72Ser
- rs121918453
- ClinGen CA256749
- cosmic curated COSV61004
- ClinVar RCV000014252
- Pathogenic
- Noonan syndrome and Noonan-related syndrome; Cardiovascular phenotype; LEOPARD s
- Missense
- Variant Prioritization Score for Impact Estimate 0.805
- REVEL 0.81
- AlphaMissense 1.00
- MetaLR 0.90
- MetaSVM 0.98
- CADD 26.30
- PolyPhen-2 0.99
- ClinVar: Pathogenic (Noonan syndrome and Noonan-related syndrome; Cardiovascular phen)
- EBI: Pathogenic (in NS1)
- UniProt: Pathogenic (in NS1)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. (PMID 11704759)
- Cited in: PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome. (PMID 12161469)