S87R (p.Ser87Arg) variant of SCN10A (Q9Y5Y9)
S87R (p.Ser87Arg) in SCN10A (Q9Y5Y9) is a missense change. 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.
S87R (p.Ser87Arg) variant details
- p.Ser87Arg
- gnomAD rs1443796927
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- REVEL 0.26
- MetaLR 0.63
- MetaSVM -0.32
- CADD 13.70
- PolyPhen-2 0.12
- SIFT 0.11
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available