A281V (p.Ala281Val) variant of SLC25A20 (O43772)
A281V (p.Ala281Val) in SLC25A20 (O43772) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Carnitine acylcarnitine translocase deficiency; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
A281V (p.Ala281Val) variant details
- p.Ala281Val
- rs953809517
- ClinGen CA73980651
- NCI-TCGA Cosmic COSV1000
- cosmic curated COSV10003
- Pathogenic/Likely pathogenic
- Carnitine acylcarnitine translocase deficiency; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.874
- REVEL 0.92
- MetaLR 0.77
- MetaSVM 0.67
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Pathogenic/Likely pathogenic (Carnitine acylcarnitine translocase deficiency; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available
- Cited in: Carnitine-Acylcarnitine Translocase Deficiency. (PMID 35862567)