L28M (p.Leu28Met) variant of SLC47A1 (Q96FL8)
L28M (p.Leu28Met) in SLC47A1 (Q96FL8) 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 0.16 / 1. The record also includes population frequency data and structural context.
L28M (p.Leu28Met) variant details
- p.Leu28Met
- NCI-TCGA Cosmic COSV9956
- cosmic curated COSV99564
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.165
- REVEL 0.04
- CADD 10.80
- PolyPhen-2 0.34
- SIFT 0.25
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available