S43F (p.Ser43Phe) variant of FKRP (Q9H9S5)
S43F (p.Ser43Phe) in FKRP (Q9H9S5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
S43F (p.Ser43Phe) variant details
- p.Ser43Phe
- gnomAD 19-46755578-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- REVEL 0.34
- CADD 15.50
- PolyPhen-2 0.10
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available