G39R (p.Gly39Arg) variant of PTPN11 (Q06124)
G39R (p.Gly39Arg) 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; 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.
G39R (p.Gly39Arg) variant details
- p.Gly39Arg
- rs886041585
- TOPMed rs886041585
- gnomAD rs886041585
- ClinGen CA10603228
- Uncertain significance
- not provided; RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.837
- REVEL 0.92
- MetaLR 0.94
- MetaSVM 1.06
- CADD 29.50
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Uncertain significance (not provided; RASopathy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Noonan Syndrome with Multiple Lentigines. (PMID 20301557)