H125R (p.His125Arg) variant of SOS2 (Son of sevenless homolog 2)
H125R (p.His125Arg) 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. 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.
H125R (p.His125Arg) variant details
- p.His125Arg
- rs777300218
- ClinGen CA389649737
- ClinVar RCV002653646
- ExAC rs777300218
- Uncertain significance
- Noonan syndrome 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- REVEL 0.33
- MetaLR 0.28
- MetaSVM -0.75
- CADD 22.50
- PolyPhen-2 0.01
- SIFT 0.01
- ClinVar: Uncertain significance (Noonan syndrome 9)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.7e-06)
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)