N10H (p.Asn10His) variant of PTPN11 (Q06124)
N10H (p.Asn10His) in PTPN11 (Q06124) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Metachondromatosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes structural context.
N10H (p.Asn10His) variant details
- p.Asn10His
- rs368633510
- ClinGen CA386776144
- ClinVar RCV002247769
- ESP rs368633510
- Uncertain significance
- Metachondromatosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.429
- AlphaMissense 0.35
- MetaLR 0.56
- MetaSVM -0.16
- PolyPhen-2 0.01
- SIFT 0.24
- EVE 0.09
- ClinVar: Uncertain significance (Metachondromatosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available