L20R (p.Leu20Arg) variant of SRD5A2 (P31213)
L20R (p.Leu20Arg) 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 0.37 / 1. The record also includes population frequency data and structural context.
L20R (p.Leu20Arg) variant details
- p.Leu20Arg
- NCI-TCGA Cosmic COSV9925
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.374
- CADD 22.80
- PolyPhen-2 0.83
- SIFT 0.12
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available