R35Q (p.Arg35Gln) variant of FKRP (Q9H9S5)
R35Q (p.Arg35Gln) in FKRP (Q9H9S5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Walker-Warburg congenital muscular dystrophy; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
R35Q (p.Arg35Gln) variant details
- p.Arg35Gln
- rs754088436
- ClinGen CA406494676
- ClinVar RCV001347816
- ClinVar RCV005340825
- Uncertain significance
- Walker-Warburg congenital muscular dystrophy; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- REVEL 0.30
- CADD 16.70
- PolyPhen-2 0.00
- SIFT 0.33
- ClinVar: Uncertain significance (Walker-Warburg congenital muscular dystrophy; Cardiovascular phe)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available