G49R (p.Gly49Arg) variant of PTPN11 (Q06124)
G49R (p.Gly49Arg) in PTPN11 (Q06124) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Ewing sarcoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
G49R (p.Gly49Arg) variant details
- p.Gly49Arg
- rs2135861867
- ClinGen CA386777384
- ClinVar RCV001586630
- ClinVar RCV005601788
- Uncertain significance
- not provided; Ewing sarcoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.798
- REVEL 0.81
- MetaLR 0.86
- MetaSVM 0.90
- CADD 27.70
- PolyPhen-2 0.36
- SIFT 0.41
- ClinVar: Uncertain significance (not provided; Ewing sarcoma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available