R77* (p.Arg77Ter) variant of EYA1 (Protein phosphatase EYA1)
R77* (p.Arg77Ter) in EYA1 (Protein phosphatase EYA1) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
R77* (p.Arg77Ter) variant details
- p.Arg77Ter
- rs200164773
- ClinGen CA371468970
- NCI-TCGA Cosmic COSV5816
- cosmic curated COSV58164
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.411
- CADD 35.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- Cited in: Branchiootorenal Spectrum Disorder. (PMID 20301554)