S34F (p.Ser34Phe) variant of FKRP (Q9H9S5)
S34F (p.Ser34Phe) in FKRP (Q9H9S5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Walker-Warburg congenital muscular dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
S34F (p.Ser34Phe) variant details
- p.Ser34Phe
- rs1453156955
- ClinGen CA406494673
- ClinVar RCV001972148
- ClinVar RCV004996132
- Uncertain significance
- Cardiovascular phenotype; Walker-Warburg congenital muscular dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.26
- CADD 15.50
- PolyPhen-2 0.00
- SIFT 0.06
- ClinVar: Uncertain significance (Cardiovascular phenotype; Walker-Warburg congenital muscular dys)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available