P72A (p.Pro72Ala) variant of FUS (RNA-binding protein FUS)
P72A (p.Pro72Ala) in FUS (RNA-binding protein FUS) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
P72A (p.Pro72Ala) variant details
- p.Pro72Ala
- ExAC rs753197353
- TOPMed rs753197353
- gnomAD rs753197353
- Missense
- Variant Prioritization Score for Impact Estimate 0.575
- REVEL 0.47
- CADD 21.50
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available