L75F (p.Leu75Phe) variant of SRD5A2 (P31213)
L75F (p.Leu75Phe) in SRD5A2 (P31213) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
L75F (p.Leu75Phe) variant details
- p.Leu75Phe
- TOPMed rs1422094082
- gnomAD rs1422094082
- Missense
- Variant Prioritization Score for Impact Estimate 0.205
- CADD 11.10
- SIFT 0.16
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available