D61A (p.Asp61Ala) variant of PTPN11 (Q06124)
D61A (p.Asp61Ala) in PTPN11 (Q06124) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of RASopathy; Noonan syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes published literature and structural context.
D61A (p.Asp61Ala) variant details
- p.Asp61Ala
- rs121918461
- ClinGen CA273600
- cosmic curated COSV61011
- ClinVar RCV000156008
- Pathogenic/Likely pathogenic
- RASopathy; Noonan syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.684
- AlphaMissense 1.00
- MetaLR 0.79
- MetaSVM 0.87
- PolyPhen-2 0.82
- SIFT 0.00
- EVE 0.13
- ClinVar: Pathogenic/Likely pathogenic (RASopathy; Noonan syndrome)
- EBI: Pathogenic (in JMML)
- UniProt: Pathogenic (in JMML)
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)
- Cited in: Noonan syndrome: clinical features, diagnosis, and management guidelines. (PMID 20876176)