D174G (p.Asp174Gly) variant of SOS2 (Son of sevenless homolog 2)
D174G (p.Asp174Gly) 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 not provided; Noonan syndrome 9. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
D174G (p.Asp174Gly) variant details
- p.Asp174Gly
- rs2139734704
- ClinGen CA389648353
- ClinVar RCV001752646
- ClinVar RCV001868521
- Uncertain significance
- not provided; Noonan syndrome 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.734
- REVEL 0.86
- MetaLR 0.54
- MetaSVM 0.18
- CADD 28.60
- PolyPhen-2 0.69
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Noonan syndrome 9)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3.1e-05)
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)