H29Y (p.His29Tyr) variant of FKRP (Q9H9S5)
H29Y (p.His29Tyr) 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; not prov. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
H29Y (p.His29Tyr) variant details
- p.His29Tyr
- rs886043192
- ClinGen CA10605222
- ClinVar RCV000282353
- ClinVar RCV001347668
- Uncertain significance
- Walker-Warburg congenital muscular dystrophy; Cardiovascular phenotype; not prov
- Missense
- Variant Prioritization Score for Impact Estimate 0.574
- REVEL 0.46
- CADD 22.00
- PolyPhen-2 0.22
- SIFT 0.22
- ClinVar: Uncertain significance (Walker-Warburg congenital muscular dystrophy; Cardiovascular phe)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.0002)
- Structural context available