P316A (p.Pro316Ala) variant of FKRP (Q9H9S5)
P316A (p.Pro316Ala) in FKRP (Q9H9S5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Walker-Warburg congenital muscular dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
P316A (p.Pro316Ala) variant details
- p.Pro316Ala
- rs28937901
- ClinGen CA406496337
- ClinVar RCV001327126
- ClinVar RCV001831029
- Likely pathogenic
- Walker-Warburg congenital muscular dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.852
- REVEL 0.93
- CADD 23.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Walker-Warburg congenital muscular dystrophy)
- EBI: Pathogenic (in MDDGC5)
- UniProt: Pathogenic (in MDDGC5)
- Most common in the Latino/Admixed American population (allele frequency 5.4e-05)
- Structural context available