H125L (p.His125Leu) variant of SOS2 (Son of sevenless homolog 2)
H125L (p.His125Leu) 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 Cardiovascular phenotype; not specified; Noonan syndrome 9. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
H125L (p.His125Leu) variant details
- p.His125Leu
- rs777300218
- ClinGen CA7177534
- ClinVar RCV001871005
- ClinVar RCV002343932
- Conflicting interpretations
- Cardiovascular phenotype; not specified; Noonan syndrome 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.40
- MetaLR 0.30
- MetaSVM -0.70
- CADD 22.90
- PolyPhen-2 0.10
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; not specified; Noonan syndrome 9)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00024)
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)