Q30H (p.Gln30His) variant of FKRP (Q9H9S5)
Q30H (p.Gln30His) in FKRP (Q9H9S5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
Q30H (p.Gln30His) variant details
- p.Gln30His
- gnomAD 19-46755540-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- REVEL 0.49
- CADD 23.80
- PolyPhen-2 0.74
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available