L11F (p.Leu11Phe) variant of GABRA1 (P14867)
L11F (p.Leu11Phe) in GABRA1 (P14867) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
L11F (p.Leu11Phe) variant details
- p.Leu11Phe
- gnomAD 5-161850841-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- REVEL 0.16
- MetaLR 0.26
- MetaSVM -0.68
- CADD 19.60
- PolyPhen-2 0.12
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available