N57Y (p.Asn57Tyr) variant of SOS1 (Son of sevenless homolog 1)
N57Y (p.Asn57Tyr) in SOS1 (Son of sevenless homolog 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Fibromatosis, gingival, 1; Noonan syndrome 4; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
N57Y (p.Asn57Tyr) variant details
- p.Asn57Tyr
- rs765764610
- ClinGen CA46014818
- ClinVar RCV001050512
- ClinVar RCV002245843
- Uncertain significance
- Fibromatosis, gingival, 1; Noonan syndrome 4; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.564
- REVEL 0.53
- CADD 22.80
- PolyPhen-2 0.58
- SIFT 1.00
- ClinVar: Uncertain significance (Fibromatosis, gingival, 1; Noonan syndrome 4; Cardiovascular phe)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 7.5e-05)
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)
- Cited in: Noonan syndrome: clinical features, diagnosis, and management guidelines. (PMID 20876176)