H111R (p.His111Arg) variant of SOS1 (Son of sevenless homolog 1)
H111R (p.His111Arg) 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 0.81 / 1. The record also includes structural context.
H111R (p.His111Arg) variant details
- p.His111Arg
- rs1572860651
- ClinGen CA346373803
- ClinVar RCV000807098
- Ensembl rs1572860651
- Uncertain significance
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.806
- AlphaMissense 0.99
- MetaLR 0.77
- MetaSVM 0.68
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.85
- ClinVar: Uncertain significance (RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available