T88R (p.Thr88Arg) variant of SCN10A (Nav1.8)
T88R (p.Thr88Arg) in SCN10A (Nav1.8) 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 0.64 / 1. The record also includes population frequency data and structural context.
T88R (p.Thr88Arg) variant details
- p.Thr88Arg
- rs1226072923
- ClinGen CA352162462
- ClinVar RCV002452966
- TOPMed rs1226072923
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.641
- REVEL 0.60
- MetaLR 0.75
- MetaSVM 0.21
- CADD 22.50
- PolyPhen-2 0.30
- SIFT 0.02
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available