V18F (p.Val18Phe) variant of GABRG2 (P18507)
V18F (p.Val18Phe) in GABRG2 (P18507) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data, published literature, and structural context.
V18F (p.Val18Phe) variant details
- p.Val18Phe
- rs183044384
- gnomAD 5-162036890-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0628
- CADD 0.11
- SIFT 0.55
- Population evidence available
- Structural context available
- Literature evidence available