I15V (p.Ile15Val) variant of GABRA1 (P14867)
I15V (p.Ile15Val) 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.
I15V (p.Ile15Val) variant details
- p.Ile15Val
- rs1194108917
- gnomAD 5-161850653-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- CADD 20.00
- SIFT 0.97
- Most common in the REMAINING population (allele frequency 6.7e-05)
- Structural context available
- Literature evidence available