S66R (p.Ser66Arg) variant of SOS1 (Son of sevenless homolog 1)
S66R (p.Ser66Arg) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
S66R (p.Ser66Arg) variant details
- p.Ser66Arg
- rs1221581719
- ClinGen CA346374121
- ClinVar RCV003654784
- ClinVar RCV004593444
- Uncertain significance
- RASopathy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.447
- REVEL 0.51
- CADD 24.50
- PolyPhen-2 0.54
- SIFT 0.00
- ClinVar: Uncertain significance (RASopathy; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available