L52I (p.Leu52Ile) variant of KCNA1 (Q09470)
L52I (p.Leu52Ile) in KCNA1 (Q09470) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
L52I (p.Leu52Ile) variant details
- p.Leu52Ile
- TOPMed rs1308404461
- gnomAD rs1308404461
- Missense
- Variant Prioritization Score for Impact Estimate 0.563
- REVEL 0.43
- CADD 23.90
- PolyPhen-2 0.32
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available