S502L (p.Ser502Leu) variant of PTPN11 (Q06124)
S502L (p.Ser502Leu) in PTPN11 (Q06124) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; RASopathy; Noonan syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
S502L (p.Ser502Leu) variant details
- p.Ser502Leu
- rs397507544
- ClinGen CA261552
- NCI-TCGA Cosmic COSV6100
- cosmic curated COSV61005
- Pathogenic
- not provided; RASopathy; Noonan syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.913
- REVEL 0.98
- CADD 31.00
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Pathogenic (not provided; RASopathy; Noonan syndrome)
- EBI: Pathogenic (in NS1)
- UniProt: Pathogenic (in NS1)
- Population evidence available
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)
- Cited in: Noonan syndrome: clinical features, diagnosis, and management guidelines. (PMID 20876176)