A87V (p.Ala87Val) variant of SLC25A20 (O43772)
A87V (p.Ala87Val) in SLC25A20 (O43772) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Carnitine acylcarnitine translocase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
A87V (p.Ala87Val) variant details
- p.Ala87Val
- rs749507449
- ClinGen CA2387448
- NCI-TCGA Cosmic COSV5980
- ClinVar RCV002651704
- Uncertain significance
- not provided; Carnitine acylcarnitine translocase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.847
- REVEL 0.90
- MetaLR 0.76
- MetaSVM 0.71
- CADD 26.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Carnitine acylcarnitine translocase deficiency)
- 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: Carnitine-Acylcarnitine Translocase Deficiency. (PMID 35862567)