G27D (p.Gly27Asp) variant of PTPN11 (Q06124)
G27D (p.Gly27Asp) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes structural context.
G27D (p.Gly27Asp) variant details
- p.Gly27Asp
- rs2135856448
- ClinGen CA386776253
- ClinVar RCV001508340
- Ensembl rs2135856448
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.924
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.95
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.73
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available