Y387H (p.Tyr387His) variant of SLC22A5 (O76082)
Y387H (p.Tyr387His) in SLC22A5 (O76082) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Renal carnitine transport defect. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
Y387H (p.Tyr387His) variant details
- p.Tyr387His
- rs2126789736
- ClinGen CA360807649
- ClinVar RCV002042412
- Ensembl rs2126789736
- Pathogenic/Likely pathogenic
- Renal carnitine transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.599
- REVEL 0.56
- CADD 27.00
- PolyPhen-2 0.88
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Renal carnitine transport defect)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Primary Carnitine Deficiency. (PMID 22420015)