C25F (p.Cys25Phe) variant of CSRP3 (P50461)
C25F (p.Cys25Phe) in CSRP3 (P50461) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
C25F (p.Cys25Phe) variant details
- p.Cys25Phe
- 1000Genomes rs190182843
- ExAC rs190182843
- TOPMed rs190182843
- gnomAD rs190182843
- Missense
- Variant Prioritization Score for Impact Estimate 0.836
- REVEL 0.88
- CADD 26.70
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the 1KG:IBS population (allele frequency 0.0048)
- Structural context available