R4Q (p.Arg4Gln) variant of PTPN11 (Q06124)
R4Q (p.Arg4Gln) in PTPN11 (Q06124) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
R4Q (p.Arg4Gln) variant details
- p.Arg4Gln
- rs2499756229
- ClinGen CA386773580
- ClinVar RCV003540107
- Likely pathogenic
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.574
- REVEL 0.39
- MetaLR 0.74
- MetaSVM 0.56
- CADD 28.40
- PolyPhen-2 0.34
- SIFT 0.29
- ClinVar: Likely pathogenic (RASopathy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available