L84M (p.Leu84Met) variant of SRD5A2 (P31213)
L84M (p.Leu84Met) in SRD5A2 (P31213) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
L84M (p.Leu84Met) variant details
- p.Leu84Met
- 1000Genomes rs369626334
- ESP rs369626334
- ExAC rs369626334
- TOPMed rs369626334
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- CADD 24.30
- PolyPhen-2 0.96
- SIFT 0.01
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available