S14N (p.Ser14Asn) variant of RIT1 (GTP-binding protein Rit1)
S14N (p.Ser14Asn) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
S14N (p.Ser14Asn) variant details
- p.Ser14Asn
- rs1673577435
- ClinGen CA342776417
- ClinVar RCV002327856
- TOPMed rs1673577435
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- REVEL 0.10
- CADD 14.50
- PolyPhen-2 0.00
- SIFT 0.55
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available