E71Q (p.Glu71Gln) variant of SOS2 (Son of sevenless homolog 2)
E71Q (p.Glu71Gln) in SOS2 (Son of sevenless homolog 2) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Noonan syndrome 9. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
E71Q (p.Glu71Gln) variant details
- p.Glu71Gln
- rs1566478915
- NCI-TCGA Cosmic COSV5356
- cosmic curated COSV53564
- Ensembl rs1566478915
- Uncertain significance
- Cardiovascular phenotype; Noonan syndrome 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.714
- REVEL 0.62
- MetaLR 0.77
- MetaSVM 0.67
- CADD 29.30
- PolyPhen-2 0.94
- SIFT 0.01
- ClinVar: Uncertain significance (Cardiovascular phenotype; Noonan syndrome 9)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available