V25M (p.Val25Met) variant of KCNQ2 (O43526)
V25M (p.Val25Met) in KCNQ2 (O43526) 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 and structural context.
V25M (p.Val25Met) variant details
- p.Val25Met
- cosmic curated COSV60433
- gnomAD rs2082238879
- Missense
- Variant Prioritization Score for Impact Estimate 0.628
- REVEL 0.56
- CADD 26.50
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available