L3F (p.Leu3Phe) variant of FKRP (Q9H9S5)
L3F (p.Leu3Phe) 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.
L3F (p.Leu3Phe) variant details
- p.Leu3Phe
- gnomAD 19-46755457-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.517
- REVEL 0.48
- CADD 21.80
- PolyPhen-2 0.42
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available