Y8C (p.Tyr8Cys) variant of SOS1 (Son of sevenless homolog 1)
Y8C (p.Tyr8Cys) 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 0.68 / 1. The record also includes population frequency data and structural context.
Y8C (p.Tyr8Cys) variant details
- p.Tyr8Cys
- rs781093356
- ClinGen CA1624900
- ClinVar RCV001898444
- ExAC rs781093356
- Uncertain significance
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.684
- REVEL 0.72
- CADD 29.20
- PolyPhen-2 0.82
- SIFT 0.00
- ClinVar: Uncertain significance (RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available