T27M (p.Thr27Met) variant of KCNQ4 (P56696)
T27M (p.Thr27Met) in KCNQ4 (P56696) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
T27M (p.Thr27Met) variant details
- p.Thr27Met
- gnomAD 1-40784173-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.535
- REVEL 0.36
- MetaLR 0.91
- MetaSVM 0.63
- CADD 23.40
- PolyPhen-2 0.52
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available