P17R (p.Pro17Arg) variant of GABRG2 (P18507)
P17R (p.Pro17Arg) in GABRG2 (P18507) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
P17R (p.Pro17Arg) variant details
- p.Pro17Arg
- gnomAD 5-162036879-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.127
- CADD 10.40
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available