S11R (p.Ser11Arg) variant of SCN5A (Q14524)
S11R (p.Ser11Arg) in SCN5A (Q14524) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
S11R (p.Ser11Arg) variant details
- p.Ser11Arg
- NCI-TCGA TCGA novel
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- REVEL 0.39
- CADD 19.60
- PolyPhen-2 0.22
- SIFT 0.08
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available