N10D (p.Asn10Asp) variant of PTPN11 (Q06124)
N10D (p.Asn10Asp) in PTPN11 (Q06124) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; RASopathy; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
N10D (p.Asn10Asp) variant details
- p.Asn10Asp
- rs368633510
- ClinGen CA6798505
- ClinVar RCV001040499
- ClinVar RCV002282433
- Uncertain significance
- Cardiovascular phenotype; RASopathy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- REVEL 0.37
- AlphaMissense 0.35
- MetaLR 0.56
- MetaSVM -0.16
- CADD 22.70
- PolyPhen-2 0.01
- ClinVar: Uncertain significance (Cardiovascular phenotype; RASopathy; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available