S34T (p.Ser34Thr) variant of FKRP (Q9H9S5)
S34T (p.Ser34Thr) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
S34T (p.Ser34Thr) variant details
- p.Ser34Thr
- rs2513984861
- ClinGen CA406494668
- ClinVar RCV003172573
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- REVEL 0.26
- CADD 11.70
- PolyPhen-2 0.01
- SIFT 0.36
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.2e-05)
- Structural context available