D108E (p.Asp108Glu) variant of SOS2 (Son of sevenless homolog 2)
D108E (p.Asp108Glu) in SOS2 (Son of sevenless homolog 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Noonan syndrome 9; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
D108E (p.Asp108Glu) variant details
- p.Asp108Glu
- rs754449669
- ClinGen CA7177563
- ClinVar RCV002638600
- ExAC rs754449669
- Conflicting interpretations
- Noonan syndrome 9; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- REVEL 0.31
- MetaLR 0.23
- MetaSVM -0.80
- CADD 17.60
- PolyPhen-2 0.05
- SIFT 0.24
- ClinVar: Conflicting classifications of pathogenicity (Noonan syndrome 9; Cardiovascular phenotype)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)