R24L (p.Arg24Leu) variant of SLC47A1 (Q96FL8)
R24L (p.Arg24Leu) in SLC47A1 (Q96FL8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
R24L (p.Arg24Leu) variant details
- p.Arg24Leu
- rs772367782
- ClinGen CA8441919
- ClinVar RCV004152811
- ExAC rs772367782
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- REVEL 0.18
- CADD 19.60
- PolyPhen-2 0.55
- SIFT 0.05
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.0002)
- Structural context available