P79S (p.Pro79Ser) variant of SCN5A (Q14524)
P79S (p.Pro79Ser) in SCN5A (Q14524) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
P79S (p.Pro79Ser) variant details
- p.Pro79Ser
- rs200923894
- ClinGen CA060252
- NCI-TCGA Cosmic COSV1000
- cosmic curated COSV10002
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.825
- REVEL 0.87
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CHB population (allele frequency 0.0049)
- Structural context available