F23del (p.Phe23del) variant of SLC22A5 (O76082)
F23del (p.Phe23del) in SLC22A5 (O76082) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
F23del (p.Phe23del) variant details
- rs377767444
- gnomAD 5-132370033-ATCT-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.234
- CADD 21.70
- Population evidence available
- Structural context available
- Cited in: Novel OCTN2 mutations: no genotype-phenotype correlations: early carnitine therapy prevents cardiomyopathy. (PMID 12210323)