R227H (p.Arg227His) variant of SLC22A5 (O76082)
R227H (p.Arg227His) in SLC22A5 (O76082) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Carnitine deficiency; not provided; Renal carnitine transport defect. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
R227H (p.Arg227His) variant details
- p.Arg227His
- rs185551386
- ClinGen CA3403949
- NCI-TCGA Cosmic COSV5537
- cosmic curated COSV55372
- Pathogenic/Likely pathogenic
- Carnitine deficiency; not provided; Renal carnitine transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.866
- REVEL 0.89
- AlphaMissense 0.90
- MetaLR 0.86
- MetaSVM 0.98
- CADD 32.00
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Carnitine deficiency; not provided; Renal carnitine transport de)
- EBI: Pathogenic (in CDSP)
- UniProt: Pathogenic (in CDSP)
- Most common in the 1KG:ASW population (allele frequency 0.0098)
- Structural context available
- Cited in: Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine… (PMID 20574985)
- Cited in: Functional and molecular studies in primary carnitine deficiency. (PMID 28841266)