N10T (p.Asn10Thr) variant of PTPN11 (Q06124)
N10T (p.Asn10Thr) 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 0.42 / 1. The record also includes structural context.
N10T (p.Asn10Thr) variant details
- p.Asn10Thr
- rs200613531
- ClinGen CA386776146
- ClinVar RCV003539596
- ClinVar RCV005220744
- Uncertain significance
- not provided; RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- AlphaMissense 0.17
- MetaLR 0.46
- MetaSVM -0.24
- PolyPhen-2 0.01
- SIFT 0.04
- EVE 0.24
- ClinVar: Uncertain significance (not provided; RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available