R265Q (p.Arg265Gln) variant of PTPN11 (Q06124)
R265Q (p.Arg265Gln) 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 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
R265Q (p.Arg265Gln) variant details
- p.Arg265Gln
- rs376607329
- ClinGen CA234739
- cosmic curated COSV61005
- ClinVar RCV000037658
- Pathogenic
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.838
- REVEL 0.81
- MetaLR 0.97
- MetaSVM 1.10
- CADD 29.80
- PolyPhen-2 0.81
- SIFT 0.11
- ClinVar: Pathogenic (RASopathy)
- EBI: Pathogenic (in NS1)
- UniProt: Pathogenic (in NS1)
- Most common in the Amish population (allele frequency 0.0011)
- Structural context available
- Cited in: Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome. (PMID 28074573)
- Cited in: American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology… (PMID 24493721)