P89S (p.Pro89Ser) variant of FKRP (Q9H9S5)
P89S (p.Pro89Ser) in FKRP (Q9H9S5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.79 / 1. The record also includes population frequency data and structural context.
P89S (p.Pro89Ser) variant details
- p.Pro89Ser
- TOPMed rs1293404628
- gnomAD rs1293404628
- Likely pathogenic
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
- Missense
- Variant Prioritization Score for Impact Estimate 0.794
- REVEL 0.82
- CADD 24.30
- PolyPhen-2 1.00
- SIFT 0.04
- ClinVar: Likely pathogenic (Muscular dystrophy-dystroglycanopathy (congenital with brain and)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available