A9T (p.Ala9Thr) variant of KCNH2 (hERG)
A9T (p.Ala9Thr) in KCNH2 (hERG) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes structural context.
A9T (p.Ala9Thr) variant details
- p.Ala9Thr
- rs199473036
- ClinGen CA006152
- NCI-TCGA Cosmic COSV5117
- ClinVar RCV000058074
- Variant assessed as somatic; high impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.801
- MetaLR 0.98
- MetaSVM 1.06
- CADD 23.80
- PolyPhen-2 0.42
- SIFT 0.00
- MutPred 0.93
- UniProt: Variant assessed as somatic; high impact.
- Structural context available