H29R (p.His29Arg) variant of FKRP (Q9H9S5)
H29R (p.His29Arg) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
H29R (p.His29Arg) variant details
- p.His29Arg
- rs777793760
- ClinGen CA9532107
- cosmic curated COSV10810
- ClinVar RCV003098911
- Uncertain significance
- Walker-Warburg congenital muscular dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- REVEL 0.47
- CADD 17.90
- PolyPhen-2 0.04
- SIFT 0.48
- ClinVar: Uncertain significance (Walker-Warburg congenital muscular dystrophy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)
- Structural context available