S113L (p.Ser113Leu) variant of SOS2 (Son of sevenless homolog 2)
S113L (p.Ser113Leu) 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 Noonan syndrome 9; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
S113L (p.Ser113Leu) variant details
- p.Ser113Leu
- rs751240491
- ClinGen CA7177562
- NCI-TCGA Cosmic COSV9936
- cosmic curated COSV99365
- Conflicting interpretations
- Noonan syndrome 9; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.17
- MetaLR 0.04
- MetaSVM -0.90
- CADD 22.20
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Conflicting classifications of pathogenicity (Noonan syndrome 9; not specified; not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the Middle Eastern population (allele frequency 0.00052)
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)