N70Y (p.Asn70Tyr) variant of RIT1 (GTP-binding protein Rit1)
N70Y (p.Asn70Tyr) in RIT1 (GTP-binding protein Rit1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; not provided; Noonan syndrome 8. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
N70Y (p.Asn70Tyr) variant details
- p.Asn70Tyr
- rs1394425355
- ClinGen CA342803278
- ClinVar RCV001765957
- ClinVar RCV001868650
- Uncertain significance
- Cardiovascular phenotype; not provided; Noonan syndrome 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- REVEL 0.39
- MetaLR 0.22
- MetaSVM -0.70
- CADD 22.20
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; not provided; Noonan syndrome 8)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)