A72T (p.Ala72Thr) variant of KCNQ2 (O43526)
A72T (p.Ala72Thr) in KCNQ2 (O43526) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
A72T (p.Ala72Thr) variant details
- p.Ala72Thr
- gnomAD rs1482105369
- Missense
- Variant Prioritization Score for Impact Estimate 0.752
- REVEL 0.76
- CADD 26.50
- PolyPhen-2 1.00
- SIFT 0.04
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available