V18I (p.Val18Ile) variant of SRD5A2 (P31213)
V18I (p.Val18Ile) in SRD5A2 (P31213) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
V18I (p.Val18Ile) variant details
- p.Val18Ile
- rs1457389420
- TOPMed rs1457389420
- gnomAD rs1457389420
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.23
- CADD 3.27
- PolyPhen-2 0.00
- SIFT 1.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available