V104L (p.Val104Leu) variant of KCNA2 (P16389)
V104L (p.Val104Leu) in KCNA2 (P16389) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
V104L (p.Val104Leu) variant details
- p.Val104Leu
- rs770186277
- gnomAD 1-110601978-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.215
- CADD 8.47
- Most common in the HGDP:OROQEN population (allele frequency 0.062)
- Structural context available
- Literature evidence available