M66L (p.Met66Leu) variant of KCNA2 (P16389)
M66L (p.Met66Leu) in KCNA2 (P16389) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
M66L (p.Met66Leu) variant details
- p.Met66Leu
- gnomAD 1-110604587-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- REVEL 0.25
- CADD 20.50
- PolyPhen-2 0.09
- SIFT 0.54
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available