L52F (p.Leu52Phe) variant of KCNA1 (Q09470)
L52F (p.Leu52Phe) in KCNA1 (Q09470) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
L52F (p.Leu52Phe) variant details
- p.Leu52Phe
- gnomAD 12-4911532-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.657
- REVEL 0.58
- MetaLR 0.60
- MetaSVM 0.35
- CADD 26.70
- PolyPhen-2 0.83
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available