W14* (p.Trp14Ter) variant of SLC22A5 (O76082)
W14* (p.Trp14Ter) in SLC22A5 (O76082) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
W14* (p.Trp14Ter) variant details
- p.Trp14Ter
- rs796052036
- ClinGen CA312961
- ClinVar RCV000186149
- ClinVar RCV003474944
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.826
- CADD 41.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Primary Carnitine Deficiency. (PMID 22420015)