L73P (p.Leu73Pro) variant of SRD5A2 (P31213)
L73P (p.Leu73Pro) in SRD5A2 (P31213) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
L73P (p.Leu73Pro) variant details
- p.Leu73Pro
- Ensembl rs1667057376
- Missense
- Variant Prioritization Score for Impact Estimate 0.113
- CADD 7.08
- PolyPhen-2 0.00
- SIFT 0.35
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available