E72G (p.Glu72Gly) variant of SOS2 (Son of sevenless homolog 2)
E72G (p.Glu72Gly) in SOS2 (Son of sevenless homolog 2) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
E72G (p.Glu72Gly) variant details
- p.Glu72Gly
- NCI-TCGA Cosmic COSV9936
- cosmic curated COSV99365
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.635
- REVEL 0.65
- MetaLR 0.59
- MetaSVM 0.29
- CADD 28.30
- PolyPhen-2 0.41
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available