A461S (p.Ala461Ser) variant of PTPN11 (Q06124)
A461S (p.Ala461Ser) 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; LEOPARD syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
A461S (p.Ala461Ser) variant details
- p.Ala461Ser
- rs121918468
- ClinGen CA261537
- NCI-TCGA Cosmic COSV1006
- cosmic curated COSV10069
- Pathogenic
- not provided; RASopathy; LEOPARD syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.885
- AlphaMissense 0.97
- MetaLR 0.99
- MetaSVM 0.98
- PolyPhen-2 0.98
- SIFT 0.02
- EVE 0.55
- ClinVar: Pathogenic (not provided; RASopathy; LEOPARD syndrome 1)
- EBI: Pathogenic (in LPRD1)
- UniProt: Pathogenic (in LPRD1)
- Structural context available
- Cited in: Noonan Syndrome with Multiple Lentigines. (PMID 20301557)
- Cited in: 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and… (PMID 25173338)