H35R (p.His35Arg) variant of SOS1 (Son of sevenless homolog 1)
H35R (p.His35Arg) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes structural context.
H35R (p.His35Arg) variant details
- p.His35Arg
- rs886041928
- ClinGen CA10602879
- ClinVar RCV000384120
- Ensembl rs886041928
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.785
- AlphaMissense 0.99
- MetaLR 0.77
- MetaSVM 0.73
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.78
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available