P7R (p.Pro7Arg) variant of SCN9A (Q15858)
P7R (p.Pro7Arg) in SCN9A (Q15858) is a missense change. Clinical records from ClinVar, EBI, 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 0.77 / 1. The record also includes structural context.
P7R (p.Pro7Arg) variant details
- p.Pro7Arg
- rs773012423
- ClinGen CA349096278
- ClinVar RCV002272106
- ExAC rs773012423
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.768
- AlphaMissense 0.43
- MetaLR 0.90
- MetaSVM 1.04
- SIFT 0.03
- MutPred 0.31
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available