N10S (p.Asn10Ser) variant of PTPN11 (Q06124)
N10S (p.Asn10Ser) 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 0.43 / 1. The record also includes population frequency data and structural context.
N10S (p.Asn10Ser) variant details
- p.Asn10Ser
- rs200613531
- ClinGen CA6798506
- ClinVar RCV002979245
- ClinVar RCV004763497
- Uncertain significance
- not provided; RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- REVEL 0.40
- AlphaMissense 0.17
- MetaLR 0.46
- MetaSVM -0.24
- CADD 23.60
- PolyPhen-2 0.01
- ClinVar: Uncertain significance (not provided; RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available