Q207H (p.Gln207His) variant of SLC22A5 (O76082)
Q207H (p.Gln207His) in SLC22A5 (O76082) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Renal carnitine transport defect. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
Q207H (p.Gln207His) variant details
- p.Gln207His
- rs746623532
- ClinVar RCV004587952
- ClinVar RCV005040702
- ExAC rs746623532
- Likely pathogenic
- Renal carnitine transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- REVEL 0.45
- CADD 21.80
- PolyPhen-2 0.10
- SIFT 0.09
- ClinVar: Likely pathogenic (Renal carnitine transport defect)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the South Asian population (allele frequency 0.00041)
- Structural context available
- Cited in: Primary Carnitine Deficiency. (PMID 22420015)