D89E (p.Asp89Glu) variant of SOS1 (Son of sevenless homolog 1)
D89E (p.Asp89Glu) in SOS1 (Son of sevenless homolog 1) 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 0.49 / 1. The record also includes structural context.
D89E (p.Asp89Glu) variant details
- p.Asp89Glu
- rs2124610871
- ClinGen CA346373946
- ClinVar RCV001966375
- Ensembl rs2124610871
- Uncertain significance
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.494
- AlphaMissense 0.85
- MetaLR 0.62
- MetaSVM 0.01
- PolyPhen-2 1.00
- SIFT 0.53
- EVE 0.18
- ClinVar: Uncertain significance (RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available