R90Q (p.Arg90Gln) variant of SCN10A (Q9Y5Y9)
R90Q (p.Arg90Gln) in SCN10A (Q9Y5Y9) 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 0.55 / 1. The record also includes population frequency data and structural context.
R90Q (p.Arg90Gln) variant details
- p.Arg90Gln
- rs1284416574
- ClinGen CA352162440
- cosmic curated COSV71862
- ClinVar RCV002453211
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.553
- REVEL 0.51
- MetaLR 0.75
- MetaSVM 0.55
- CADD 25.00
- PolyPhen-2 0.38
- SIFT 0.01
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BANTUSOUTHAFRICA population (allele frequency 0.062)
- Structural context available