F41C (p.Phe41Cys) variant of SLC22A5 (O76082)
F41C (p.Phe41Cys) in SLC22A5 (O76082) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Renal carnitine transport defect. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
F41C (p.Phe41Cys) variant details
- p.Phe41Cys
- rs1335556134
- ClinGen CA360802423
- ClinVar RCV000697989
- ClinVar RCV002226485
- Conflicting interpretations
- not provided; Renal carnitine transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.748
- REVEL 0.89
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Renal carnitine transport defect)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: Primary Carnitine Deficiency. (PMID 22420015)