R4G (p.Arg4Gly) variant of PTPN11 (Q06124)
R4G (p.Arg4Gly) in PTPN11 (Q06124) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
R4G (p.Arg4Gly) variant details
- p.Arg4Gly
- rs886041517
- ClinGen CA10603227
- ClinVar RCV000353023
- ClinVar RCV006462297
- Conflicting interpretations
- not provided; RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.667
- REVEL 0.52
- MetaLR 0.84
- MetaSVM 0.79
- CADD 33.00
- PolyPhen-2 0.29
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (not provided; RASopathy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available