Q32Q (p.Gln32Gln) variant of GABRA1 (P14867)
Q32Q (p.Gln32Gln) in GABRA1 (P14867) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
Q32Q (p.Gln32Gln) variant details
- p.Gln32Gln
- rs76224028
- gnomAD 5-161854179-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.531
- CADD 7.85
- Most common in the HGDP:MANDENKA population (allele frequency 0.1)
- Structural context available
- Cited in: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American… (PMID 25741868)