E72A (p.Glu72Ala) variant of SOS2 (Son of sevenless homolog 2)
E72A (p.Glu72Ala) in SOS2 (Son of sevenless homolog 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
E72A (p.Glu72Ala) variant details
- p.Glu72Ala
- Ensembl rs1886471144
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.594
- REVEL 0.58
- MetaLR 0.62
- MetaSVM 0.29
- CADD 25.00
- PolyPhen-2 0.41
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available