A60T (p.Ala60Thr) variant of SCN5A (Q14524)
A60T (p.Ala60Thr) 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 0.73 / 1. The record also includes structural context.
A60T (p.Ala60Thr) variant details
- p.Ala60Thr
- rs1407018433
- ClinGen CA352158333
- ClinVar RCV003136509
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.728
- AlphaMissense 0.49
- MetaLR 0.96
- MetaSVM 1.10
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.38
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available