H151Y (p.His151Tyr) variant of SCN5A (Q14524)
H151Y (p.His151Tyr) 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 0.58 / 1. The record also includes population frequency data and structural context.
H151Y (p.His151Tyr) variant details
- p.His151Tyr
- rs2062340321
- ClinGen CA352154617
- ClinVar RCV003700625
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.577
- REVEL 0.46
- CADD 24.10
- PolyPhen-2 0.42
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available