T507K (p.Thr507Lys) variant of PTPN11 (Q06124)
T507K (p.Thr507Lys) in PTPN11 (Q06124) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Non-immune hydrops fetalis; not provided; Noonan syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
T507K (p.Thr507Lys) variant details
- p.Thr507Lys
- rs886039463
- ClinGen CA10588540
- NCI-TCGA Cosmic COSV1044
- NCI-TCGA Cosmic COSV6100
- Pathogenic/Likely pathogenic
- Non-immune hydrops fetalis; not provided; Noonan syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.942
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.97
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.80
- ClinVar: Pathogenic/Likely pathogenic (Non-immune hydrops fetalis; not provided; Noonan syndrome 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: EMQN Best Practice Guidelines for molecular and haematology methods for carrier identification and prenatal diagnosis… (PMID 25052315)
- Cited in: Noonan Syndrome. (PMID 20301303)