A110V (p.Ala110Val) variant of SCN5A (Nav1.5)
A110V (p.Ala110Val) in SCN5A (Nav1.5) 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 0.89 / 1. The record also includes population frequency data and structural context.
A110V (p.Ala110Val) variant details
- p.Ala110Val
- rs2062505799
- ClinGen CA352157006
- ClinVar RCV003491443
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.892
- REVEL 0.96
- ESM-1b 1.00
- AlphaMissense 0.67
- MetaLR 0.95
- MetaSVM 1.10
- CADD 26.70
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available