P39A (p.Pro39Ala) variant of FKRP (Q9H9S5)
P39A (p.Pro39Ala) in FKRP (Q9H9S5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
P39A (p.Pro39Ala) variant details
- p.Pro39Ala
- ExAC rs772667330
- gnomAD rs772667330
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.204
- REVEL 0.24
- CADD 0.72
- PolyPhen-2 0.00
- SIFT 0.28
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00035)
- Structural context available