P491S (p.Pro491Ser) variant of PTPN11 (Q06124)
P491S (p.Pro491Ser) 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; LEOPARD syndrome 1; Noonan syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
P491S (p.Pro491Ser) variant details
- p.Pro491Ser
- rs397507539
- ClinGen CA261543
- NCI-TCGA Cosmic COSV6100
- cosmic curated COSV61006
- Pathogenic
- Noonan syndrome and Noonan-related syndrome; LEOPARD syndrome 1; Noonan syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.643
- REVEL 0.58
- CADD 22.40
- PolyPhen-2 0.03
- SIFT 0.19
- ClinVar: Pathogenic (Noonan syndrome and Noonan-related syndrome; LEOPARD syndrome 1;)
- 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: A PTPN11 allele encoding a catalytically impaired SHP2 protein in a patient with a Noonan syndrome phenotype. (PMID 24891296)
- Cited in: American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology… (PMID 24493721)