Q63L (p.Gln63Leu) variant of SOS1 (Son of sevenless homolog 1)
Q63L (p.Gln63Leu) in SOS1 (Son of sevenless homolog 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
Q63L (p.Gln63Leu) variant details
- p.Gln63Leu
- rs557722218
- ClinGen CA1624849
- ClinVar RCV003091826
- 1000Genomes rs557722218
- Likely benign
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.569
- REVEL 0.53
- CADD 24.00
- PolyPhen-2 0.66
- SIFT 0.22
- ClinVar: Likely benign (RASopathy)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:ITU population (allele frequency 0.0049)
- Structural context available