L51I (p.Leu51Ile) variant of KCNA2 (P16389)
L51I (p.Leu51Ile) in KCNA2 (P16389) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. 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.
L51I (p.Leu51Ile) variant details
- p.Leu51Ile
- Ensembl rs2101403936
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.564
- REVEL 0.73
- CADD 23.90
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available