V12M (p.Val12Met) variant of ABCG2 (Q9UNQ0)
V12M (p.Val12Met) in ABCG2 (Q9UNQ0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign; affects; association in the context of ABCG2-related disorder; BLOOD GROUP, JUNIOR SYSTEM; URIC ACID CONCENTRATION, SER. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
V12M (p.Val12Met) variant details
- p.Val12Met
- rs2231137
- ClinGen CA129174
- cosmic curated COSV52945
- ClinVar RCV000023337
- Likely benign; Affects; association
- ABCG2-related disorder; BLOOD GROUP, JUNIOR SYSTEM; URIC ACID CONCENTRATION, SER
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.18
- CADD 2.36
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Likely benign; Affects; association (ABCG2-related disorder; BLOOD GROUP, JUNIOR SYSTEM; URIC ACID CO)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:PAPUANSEPIK population (allele frequency 1)
- Structural context available
- Cited in: Catalog of 605 single-nucleotide polymorphisms (SNPs) among 13 genes encoding human ATP-binding cassette transporters… (PMID 12111378)
- Cited in: Natural allelic variants of breast cancer resistance protein (BCRP) and their relationship to BCRP expression in human… (PMID 12544509)