K65R (p.Lys65Arg) variant of SCN10A (Q9Y5Y9)
K65R (p.Lys65Arg) in SCN10A (Q9Y5Y9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
K65R (p.Lys65Arg) variant details
- p.Lys65Arg
- cosmic curated COSV71860
- TOPMed rs1028618421
- gnomAD rs1028618421
- Likely benign
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- REVEL 0.29
- MetaLR 0.56
- MetaSVM -0.41
- CADD 7.94
- PolyPhen-2 0.00
- SIFT 0.52
- ClinVar: Likely benign (Cardiovascular phenotype)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available