T101A (p.Thr101Ala) variant of SCN5A (Q14524)
T101A (p.Thr101Ala) in SCN5A (Q14524) is a missense change. Clinical records from ClinVar, EBI, 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 0.80 / 1. The record also includes structural context.
T101A (p.Thr101Ala) variant details
- p.Thr101Ala
- rs2062506882
- ClinGen CA352157064
- ClinVar RCV002435860
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.804
- AlphaMissense 0.53
- MetaLR 0.94
- MetaSVM 1.08
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.59
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available