G21R (p.Gly21Arg) variant of SOS1 (Son of sevenless homolog 1)
G21R (p.Gly21Arg) 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 0.65 / 1. The record also includes population frequency data and structural context.
G21R (p.Gly21Arg) variant details
- p.Gly21Arg
- rs771423136
- ClinGen CA346374606
- ClinVar RCV001347175
- ExAC rs771423136
- Uncertain significance
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.647
- REVEL 0.68
- CADD 23.90
- PolyPhen-2 0.03
- SIFT 0.00
- ClinVar: Uncertain significance (RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 3.6e-05)
- Structural context available