L55M (p.Leu55Met) variant of SRD5A2 (P31213)
L55M (p.Leu55Met) in SRD5A2 (P31213) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact in the context of in PPSH. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
L55M (p.Leu55Met) variant details
- p.Leu55Met
- NCI-TCGA Cosmic COSV9925
- Variant assessed as somatic; moderate impact.
- in PPSH
- Missense
- Variant Prioritization Score for Impact Estimate 0.444
- CADD 23.30
- PolyPhen-2 0.95
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact. (in PPSH)
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available