Q510P (p.Gln510Pro) variant of PTPN11 (Q06124)
Q510P (p.Gln510Pro) in PTPN11 (Q06124) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
Q510P (p.Gln510Pro) variant details
- p.Gln510Pro
- rs121918470
- ClinGen CA256758
- ClinVar RCV000014272
- ClinVar RCV000033554
- Pathogenic
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.969
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.92
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.94
- ClinVar: Pathogenic (RASopathy)
- EBI: Pathogenic (in LPRD1)
- UniProt: Pathogenic (in LPRD1)
- Structural context available
- Cited in: PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience. (PMID 15520399)
- Cited in: Genetic heterogeneity in LEOPARD syndrome: two families with no mutations in PTPN11. (PMID 15690106)