L18I (p.Leu18Ile) variant of ABCC4 (O15439)
L18I (p.Leu18Ile) in ABCC4 (O15439) is a missense change. Clinical records from ClinVar and UniProt describe it as benign in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and published literature.
L18I (p.Leu18Ile) variant details
- p.Leu18Ile
- rs11568681
- cosmic curated COSV65316
- UniProt VAR 046445
- 1000Genomes rs11568681
- Benign
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.686
- CADD 18.40
- PolyPhen-2 0.15
- SIFT 0.39
- ClinVar: Benign (not specified)
- UniProt: Benign (in dbSNP:rs11568681)
- Most common in the HGDP:LAHU population (allele frequency 0.1)
- Cited in: Expression of MRP4 confers resistance to ganciclovir and compromises bystander cell killing. (PMID 12105214)
- Cited in: Isolation of MOAT-B, a widely expressed multidrug resistance-associated protein/canalicular multispecific organic anion… (PMID 9661885)