P29Q (p.Pro29Gln) variant of GABRA1 (P14867)
P29Q (p.Pro29Gln) in GABRA1 (P14867) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
P29Q (p.Pro29Gln) variant details
- p.Pro29Gln
- cosmic curated COSV50104
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- REVEL 0.17
- CADD 13.20
- PolyPhen-2 0.05
- SIFT 0.47
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available