N10Y (p.Asn10Tyr) variant of PTPN11 (Q06124)
N10Y (p.Asn10Tyr) in PTPN11 (Q06124) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of RASopathy; Cardiovascular phenotype; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes structural context.
N10Y (p.Asn10Tyr) variant details
- p.Asn10Tyr
- rs368633510
- ClinGen CA386776145
- ClinVar RCV003339290
- ClinVar RCV004784143
- Uncertain significance
- RASopathy; Cardiovascular phenotype; not provided
- 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 (RASopathy; Cardiovascular phenotype; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available