A301D (p.Ala301Asp) variant of SLC22A5 (O76082)
A301D (p.Ala301Asp) in SLC22A5 (O76082) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 published literature and structural context.
A301D (p.Ala301Asp) variant details
- p.Ala301Asp
- rs72552730
- ClinGen CA342664
- ClinVar RCV001975156
- UniProt VAR 064135
- Pathogenic
- Renal carnitine transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.601
- AlphaMissense 0.23
- MetaLR 0.64
- MetaSVM 0.39
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.56
- ClinVar: Pathogenic (Renal carnitine transport defect)
- EBI: Pathogenic (in CDSP)
- UniProt: Pathogenic (in CDSP)
- Structural context available
- Cited in: Functional analysis of mutations in the OCTN2 transporter causing primary carnitine deficiency: lack of… (PMID 11058897)
- Cited in: Validation of dye-binding/high-resolution thermal denaturation for the identification of mutations in the SLC22A5 gene. (PMID 15714519)