V9L (p.Val9Leu) variant of KCNA1 (Q09470)
V9L (p.Val9Leu) in KCNA1 (Q09470) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
V9L (p.Val9Leu) variant details
- p.Val9Leu
- TOPMed rs1194152428
- gnomAD rs1194152428
- NCI-TCGA Cosmic COSV1012
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- REVEL 0.12
- CADD 17.20
- PolyPhen-2 0.00
- SIFT 0.47
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available