R103* (p.Arg103Ter) variant of SRD5A2 (P31213)
R103* (p.Arg103Ter) 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 0.47 / 1. The record also includes population frequency data and structural context.
R103* (p.Arg103Ter) variant details
- p.Arg103Ter
- rs267599353
- ClinGen CA1599969
- ClinVar RCV000634579
- ClinVar RCV001270012
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.468
- CADD 35.00
- SIFT 0.01
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available