G46D (p.Gly46Asp) variant of FKRP (Q9H9S5)
G46D (p.Gly46Asp) in FKRP (Q9H9S5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
G46D (p.Gly46Asp) variant details
- p.Gly46Asp
- gnomAD 19-46755587-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- REVEL 0.41
- CADD 17.00
- PolyPhen-2 0.00
- SIFT 0.42
- Population evidence available
- Structural context available
- Literature evidence available