N70S (p.Asn70Ser) variant of RIT1 (GTP-binding protein Rit1)
N70S (p.Asn70Ser) in RIT1 (GTP-binding protein Rit1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
N70S (p.Asn70Ser) variant details
- p.Asn70Ser
- TOPMed rs1673399593
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- REVEL 0.38
- MetaLR 0.11
- MetaSVM -0.74
- CADD 23.50
- PolyPhen-2 0.23
- SIFT 0.37
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available