N308T (p.Asn308Thr) variant of PTPN11 (Q06124)
N308T (p.Asn308Thr) in PTPN11 (Q06124) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely 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 0.96 / 1. The record also includes published literature and structural context.
N308T (p.Asn308Thr) variant details
- p.Asn308Thr
- rs121918455
- ClinGen CA261607
- cosmic curated COSV61014
- ClinVar RCV000033517
- Pathogenic/Likely pathogenic
- Noonan syndrome and Noonan-related syndrome; Cardiovascular phenotype; LEOPARD s
- Missense
- Variant Prioritization Score for Impact Estimate 0.963
- AlphaMissense 0.98
- MetaLR 0.99
- MetaSVM 1.02
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.89
- ClinVar: Pathogenic/Likely pathogenic (Noonan syndrome and Noonan-related syndrome; Cardiovascular phen)
- EBI: Pathogenic (in NS1)
- UniProt: Pathogenic (in NS1)
- Structural context available
- Cited in: American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology… (PMID 24493721)
- Cited in: Noonan Syndrome with Multiple Lentigines. (PMID 20301557)