H48= variant of ADH1B (P00325)
H48= in ADH1B (P00325) is a missense change. Clinical records from EBI and UniProt describe it as protective. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
H48= variant details
- rs1229984
- ClinVar RCV000019813
- ClinVar RCV000019814
- Protective
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- AlphaMissense 0.26
- MetaLR 0.00
- MetaSVM -1.00
- SIFT 0.77
- EBI: Protective (in dbSNP:rs1229984)
- UniProt: Protective (in dbSNP:rs1229984)
- Population evidence available
- Structural context available
- Cited in: Regulation of the mammalian alcohol dehydrogenase genes. (PMID 10697413)
- Cited in: A global perspective on genetic variation at the ADH genes reveals unusual patterns of linkage disequilibrium and… (PMID 12050823)