P5A (p.Pro5Ala) variant of GABRA1 (P14867)
P5A (p.Pro5Ala) 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.
P5A (p.Pro5Ala) variant details
- p.Pro5Ala
- gnomAD 5-161850677-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- CADD 18.20
- SIFT 0.23
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available