D40G (p.Asp40Gly) variant of PTPN11 (Q06124)
D40G (p.Asp40Gly) in PTPN11 (Q06124) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes structural context.
D40G (p.Asp40Gly) variant details
- p.Asp40Gly
- rs397516795
- ClinGen CA134635
- NCI-TCGA Cosmic COSV1006
- cosmic curated COSV10069
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.588
- AlphaMissense 0.99
- MetaLR 0.64
- MetaSVM 0.26
- PolyPhen-2 0.37
- SIFT 0.07
- EVE 0.43
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available