I141V (p.Ile141Val) variant of SCN5A (Q14524)
I141V (p.Ile141Val) in SCN5A (Q14524) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
I141V (p.Ile141Val) variant details
- p.Ile141Val
- rs794728845
- ClinGen CA352154763
- ClinVar RCV003555049
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.799
- REVEL 0.94
- CADD 22.80
- PolyPhen-2 0.99
- SIFT 0.06
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available