N41S (p.Asn41Ser) variant of SOS2 (Son of sevenless homolog 2)
N41S (p.Asn41Ser) 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 Cardiovascular phenotype; Noonan syndrome 9. 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.
N41S (p.Asn41Ser) variant details
- p.Asn41Ser
- rs1249312381
- ClinGen CA389651419
- ClinVar RCV002367239
- ClinVar RCV003754952
- Uncertain significance
- Cardiovascular phenotype; Noonan syndrome 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.32
- MetaLR 0.22
- MetaSVM -0.69
- CADD 20.80
- PolyPhen-2 0.00
- SIFT 0.13
- ClinVar: Uncertain significance (Cardiovascular phenotype; Noonan syndrome 9)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3.1e-05)
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)