G46V (p.Gly46Val) variant of FKRP (Q9H9S5)
G46V (p.Gly46Val) in FKRP (Q9H9S5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
G46V (p.Gly46Val) variant details
- p.Gly46Val
- gnomAD 19-46755587-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.515
- REVEL 0.47
- CADD 18.60
- PolyPhen-2 0.17
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available