A110V (p.Ala110Val) variant of SCN5A (Q14524)
A110V (p.Ala110Val) in SCN5A (Q14524) 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 0.89
- REVEL 0.96
- CADD 27.90
- PolyPhen-2 1.00
- SIFT 0.01
- 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