D177V (p.Asp177Val) variant of SOS2 (Son of sevenless homolog 2)
D177V (p.Asp177Val) in SOS2 (Son of sevenless homolog 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Noonan syndrome 9. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
D177V (p.Asp177Val) variant details
- p.Asp177Val
- gnomAD rs1313632636
- Likely pathogenic
- Noonan syndrome 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.611
- REVEL 0.70
- MetaLR 0.38
- MetaSVM -0.16
- CADD 22.80
- PolyPhen-2 0.03
- SIFT 0.00
- ClinVar: Likely pathogenic (Noonan syndrome 9)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available