A72T (p.Ala72Thr) variant of PTPN11 (Q06124)
A72T (p.Ala72Thr) 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; not provided; RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes published literature and structural context.
A72T (p.Ala72Thr) variant details
- p.Ala72Thr
- rs121918453
- ClinGen CA180706
- NCI-TCGA Cosmic COSV6100
- cosmic curated COSV61004
- Pathogenic/Likely pathogenic
- Noonan syndrome and Noonan-related syndrome; not provided; RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.82
- AlphaMissense 1.00
- MetaLR 0.90
- MetaSVM 0.98
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.51
- ClinVar: Pathogenic/Likely pathogenic (Noonan syndrome and Noonan-related syndrome; not provided; RASop)
- EBI: Pathogenic (in JMML)
- UniProt: Pathogenic (in JMML)
- Structural context available
- Cited in: Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia. (PMID 12717436)
- Cited in: American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology… (PMID 24493721)