A9T (p.Ala9Thr) variant of KCNH2 (hERG)
A9T (p.Ala9Thr) in KCNH2 (hERG) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A9T (p.Ala9Thr) variant details
- p.Ala9Thr
- gnomAD rs1348684482
- Missense
- Variant Prioritization Score for Impact Estimate 0.632
- REVEL 0.58
- CADD 25.50
- PolyPhen-2 0.49
- SIFT 0.03
- Most common in the HGDP:MANDENKA population (allele frequency 0.33)
- Structural context available
- KCNH2 MAVE Trafficking Scores: score 161