E20* (p.Glu20Ter) variant of RP2 (Protein XRP2)
E20* (p.Glu20Ter) in RP2 (Protein XRP2) 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 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
E20* (p.Glu20Ter) variant details
- p.Glu20Ter
- rs1924523272
- ClinGen CA413038259
- ClinVar RCV001382693
- ClinVar RCV005438985
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.357
- CADD 29.10
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)