Y39F (p.Tyr39Phe) variant of ABCC2 (Q92887)
Y39F (p.Tyr39Phe) in ABCC2 (Q92887) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided; Dubin-Johnson syndrome; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
Y39F (p.Tyr39Phe) variant details
- p.Tyr39Phe
- rs927344
- ClinGen CA5642784
- cosmic curated COSV10746
- ClinVar RCV000988441
- Benign
- not provided; Dubin-Johnson syndrome; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- CADD 19.60
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Benign (not provided; Dubin-Johnson syndrome; not specified)
- EBI: Benign (in dbSNP:rs927344)
- UniProt: Benign (in dbSNP:rs927344)
- Most common in the Finnish in Finland (FIN) population (allele frequency 1)
- Structural context available
- Cited in: Exon-intron organization of the human multidrug-resistance protein 2 (MRP2) gene mutated in Dubin-Johnson syndrome. (PMID 10464142)
- Cited in: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID 15489334)