S14I (p.Ser14Ile) variant of RIT1 (GTP-binding protein Rit1)
S14I (p.Ser14Ile) 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.
S14I (p.Ser14Ile) variant details
- p.Ser14Ile
- rs1673577435
- ClinGen CA342776413
- ClinVar RCV002327859
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.07
- CADD 20.30
- PolyPhen-2 0.00
- SIFT 0.05
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available