A461V (p.Ala461Val) variant of PTPN11 (Q06124)
A461V (p.Ala461Val) in PTPN11 (Q06124) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes structural context.
A461V (p.Ala461Val) variant details
- p.Ala461Val
- rs397509344
- ClinGen CA386778105
- ClinVar RCV001950464
- Ensembl rs397509344
- Uncertain significance
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.956
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.96
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.86
- ClinVar: Uncertain significance (RASopathy)
- EBI: Pathogenic (in LPRD1)
- UniProt: Pathogenic (in LPRD1)
- Structural context available