R21H (p.Arg21His) variant of SLC47A1 (Q96FL8)
R21H (p.Arg21His) in SLC47A1 (Q96FL8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.04 / 1. The record also includes population frequency data and structural context.
R21H (p.Arg21His) variant details
- p.Arg21His
- TOPMed rs895634071
- gnomAD rs895634071
- Likely benign
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.04
- REVEL 0.01
- CADD 4.51
- PolyPhen-2 0.01
- SIFT 0.07
- ClinVar: Likely benign (not specified)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available