P29A (p.Pro29Ala) variant of GABRA1 (P14867)
P29A (p.Pro29Ala) in GABRA1 (P14867) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
P29A (p.Pro29Ala) variant details
- p.Pro29Ala
- rs1421737328
- gnomAD 5-161850805-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.596
- CADD 13.70
- SIFT 0.31
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available