R48I (p.Arg48Ile) variant of GABRA1 (P14867)
R48I (p.Arg48Ile) in GABRA1 (P14867) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
R48I (p.Arg48Ile) variant details
- p.Arg48Ile
- gnomAD 5-161854226-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.734
- REVEL 0.73
- MetaLR 0.66
- MetaSVM 0.38
- CADD 27.80
- PolyPhen-2 0.88
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available