W53* (p.Trp53Ter) variant of SRD5A2 (P31213)
W53* (p.Trp53Ter) in SRD5A2 (P31213) 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 0.85 / 1. The record also includes population frequency data and structural context.
W53* (p.Trp53Ter) variant details
- p.Trp53Ter
- rs1667063572
- ClinGen CA346599001
- ClinVar RCV003501687
- gnomAD rs1667063572
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.849
- CADD 37.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available