Y91N (p.Tyr91Asn) variant of SRD5A2 (P31213)
Y91N (p.Tyr91Asn) in SRD5A2 (P31213) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
Y91N (p.Tyr91Asn) variant details
- p.Tyr91Asn
- ExAC rs201175894
- TOPMed rs201175894
- gnomAD rs201175894
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.628
- CADD 27.00
- SIFT 0.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available