G46C (p.Gly46Cys) variant of FKRP (Q9H9S5)
G46C (p.Gly46Cys) in FKRP (Q9H9S5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
G46C (p.Gly46Cys) variant details
- p.Gly46Cys
- cosmic curated COSV10738
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- REVEL 0.43
- CADD 22.50
- PolyPhen-2 0.69
- SIFT 0.02
- Population evidence available
- Structural context available