P89L (p.Pro89Leu) variant of FKRP (Q9H9S5)
P89L (p.Pro89Leu) in FKRP (Q9H9S5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies). The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
P89L (p.Pro89Leu) variant details
- p.Pro89Leu
- rs770711331
- ClinGen CA9532135
- ClinVar RCV000665956
- ClinVar RCV000700227
- Pathogenic/Likely pathogenic
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
- Missense
- Variant Prioritization Score for Impact Estimate 0.864
- REVEL 0.94
- CADD 25.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Muscular dystrophy-dystroglycanopathy (congenital with brain and)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Consensus statement on standard of care for congenital muscular dystrophies. (PMID 21078917)