Y8F (p.Tyr8Phe) variant of SOS1 (Son of sevenless homolog 1)
Y8F (p.Tyr8Phe) 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 Noonan syndrome 4; Fibromatosis, gingival, 1; RASopathy. 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.
Y8F (p.Tyr8Phe) variant details
- p.Tyr8Phe
- rs781093356
- ClinGen CA346374768
- ClinVar RCV001331442
- ClinVar RCV001863242
- Uncertain significance
- Noonan syndrome 4; Fibromatosis, gingival, 1; RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.563
- REVEL 0.55
- CADD 24.20
- PolyPhen-2 0.30
- SIFT 0.01
- ClinVar: Uncertain significance (Noonan syndrome 4; Fibromatosis, gingival, 1; RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)
- Cited in: Noonan syndrome: clinical features, diagnosis, and management guidelines. (PMID 20876176)