M205K (p.Met205Lys) variant of SLC22A5 (O76082)
M205K (p.Met205Lys) in SLC22A5 (O76082) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Renal carnitine transport defect. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes published literature and structural context.
M205K (p.Met205Lys) variant details
- p.Met205Lys
- rs796052033
- ClinGen CA312939
- ClinVar RCV000671021
- Ensembl rs796052033
- Uncertain significance
- Renal carnitine transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.716
- AlphaMissense 0.91
- MetaLR 0.62
- MetaSVM 0.44
- PolyPhen-2 0.95
- SIFT 0.00
- EVE 0.78
- ClinVar: Uncertain significance (Renal carnitine transport defect)
- EBI: Likely pathogenic (in CDSP)
- UniProt: Likely pathogenic (in CDSP)
- Structural context available
- Cited in: Primary Carnitine Deficiency. (PMID 22420015)