S34C (p.Ser34Cys) variant of FKRP (Q9H9S5)
S34C (p.Ser34Cys) in FKRP (Q9H9S5) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
S34C (p.Ser34Cys) variant details
- p.Ser34Cys
- TOPMed rs1453156955
- gnomAD rs1453156955
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- REVEL 0.29
- CADD 18.70
- PolyPhen-2 0.17
- SIFT 0.03
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- Structural context available