P115R (p.Pro115Arg) variant of SCN10A (Q9Y5Y9)
P115R (p.Pro115Arg) in SCN10A (Q9Y5Y9) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
P115R (p.Pro115Arg) variant details
- p.Pro115Arg
- ExAC rs760579685
- gnomAD rs760579685
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.884
- REVEL 0.92
- MetaLR 0.95
- MetaSVM 1.10
- CADD 26.80
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available