P17Q (p.Pro17Gln) variant of GABRG2 (P18507)
P17Q (p.Pro17Gln) in GABRG2 (P18507) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
P17Q (p.Pro17Gln) variant details
- p.Pro17Gln
- rs538410005
- gnomAD 5-162036915-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.166
- CADD 6.58
- SIFT 0.41
- Most common in the HGDP:NAXI population (allele frequency 0.071)
- Structural context available
- Literature evidence available