P53R (p.Pro53Arg) variant of SCN8A (Q9UQD0)
P53R (p.Pro53Arg) in SCN8A (Q9UQD0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Early-infantile DEE. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
P53R (p.Pro53Arg) variant details
- p.Pro53Arg
- rs1057524711
- ClinGen CA16606300
- ClinVar RCV000425482
- ClinVar RCV002522709
- Uncertain significance
- not provided; Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.673
- REVEL 0.62
- ESM-1b 1.00
- AlphaMissense 0.32
- MetaLR 0.85
- MetaSVM 0.82
- CADD 22.50
- ClinVar: Uncertain significance (not provided; Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:SURUI population (allele frequency 0.21)
- Structural context available