R24K (p.Arg24Lys) variant of GABRA1 (P14867)
R24K (p.Arg24Lys) in GABRA1 (P14867) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
R24K (p.Arg24Lys) variant details
- p.Arg24Lys
- gnomAD 5-161850881-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.11
- MetaLR 0.21
- MetaSVM -0.92
- CADD 16.60
- PolyPhen-2 0.00
- SIFT 0.33
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available