M85K (p.Met85Lys) variant of SLC25A20 (O43772)
M85K (p.Met85Lys) in SLC25A20 (O43772) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Carnitine acylcarnitine translocase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
M85K (p.Met85Lys) variant details
- p.Met85Lys
- rs1374102445
- ClinGen CA352634543
- ClinVar RCV003119031
- ClinVar RCV006363389
- Uncertain significance
- Inborn genetic diseases; Carnitine acylcarnitine translocase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.695
- REVEL 0.84
- MetaLR 0.40
- MetaSVM -0.13
- CADD 25.20
- PolyPhen-2 0.86
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases; Carnitine acylcarnitine translocase def)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available
- Cited in: Carnitine-Acylcarnitine Translocase Deficiency. (PMID 35862567)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)