T468M (p.Thr468Met) variant of PTPN11 (Q06124)
T468M (p.Thr468Met) in PTPN11 (Q06124) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Noonan syndrome with multiple lentigines. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
T468M (p.Thr468Met) variant details
- p.Thr468Met
- rs121918457
- ClinGen CA220134
- NCI-TCGA Cosmic COSV6100
- cosmic curated COSV61005
- Pathogenic
- Noonan syndrome with multiple lentigines
- Missense
- Variant Prioritization Score for Impact Estimate 0.891
- REVEL 0.96
- CADD 26.70
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic (Noonan syndrome with multiple lentigines)
- EBI: Pathogenic (in LPRD1)
- UniProt: Pathogenic (in LPRD1)
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available
- Cited in: Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene. (PMID 12058348)
- Cited in: Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes. (PMID 12960218)