L18F (p.Leu18Phe) variant of GABRA1 (P14867)
L18F (p.Leu18Phe) in GABRA1 (P14867) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
L18F (p.Leu18Phe) variant details
- p.Leu18Phe
- gnomAD 5-161850799-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- CADD 17.50
- SIFT 0.71
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available