L173V (p.Leu173Val) variant of SCN5A (Q14524)
L173V (p.Leu173Val) in SCN5A (Q14524) is a missense change. Clinical records from ClinVar 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 0.59 / 1. The record also includes population frequency data and structural context.
L173V (p.Leu173Val) variant details
- p.Leu173Val
- cosmic curated COSV10465
- TOPMed rs1257767162
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.585
- REVEL 0.65
- CADD 18.00
- PolyPhen-2 0.97
- SIFT 0.12
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 7.2e-06)
- Structural context available