I56T (p.Ile56Thr) variant of PTPN11 (Q06124)
I56T (p.Ile56Thr) in PTPN11 (Q06124) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Noonan syndrome and Noonan-related syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
I56T (p.Ile56Thr) variant details
- p.Ile56Thr
- rs1052382672
- ClinGen CA243707917
- ClinVar RCV000531774
- ClinVar RCV000788007
- Likely pathogenic
- Noonan syndrome and Noonan-related syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.959
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.02
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.88
- ClinVar: Likely pathogenic (Noonan syndrome and Noonan-related syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)