H125Y (p.His125Tyr) variant of SOS2 (Son of sevenless homolog 2)
H125Y (p.His125Tyr) 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 Noonan syndrome 9; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
H125Y (p.His125Tyr) variant details
- p.His125Tyr
- gnomAD rs1309867315
- Uncertain significance
- Noonan syndrome 9; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.551
- REVEL 0.47
- MetaLR 0.42
- MetaSVM -0.10
- CADD 23.50
- PolyPhen-2 0.33
- SIFT 0.14
- ClinVar: Uncertain significance (Noonan syndrome 9; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 7.3e-06)
- Structural context available