H48R (p.His48Arg) variant of ADH1B (P00325)
H48R (p.His48Arg) 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 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
H48R (p.His48Arg) variant details
- p.His48Arg
- rs1229984
- cosmic curated COSV59295
- UniProt VAR 000426
- 1000Genomes rs1229984
- Protective
- Missense
- Variant Prioritization Score for Impact Estimate 0.193
- REVEL 0.09
- AlphaMissense 0.26
- MetaLR 0.00
- MetaSVM -1.00
- CADD 13.10
- PolyPhen-2 0.00
- EBI: Protective (in dbSNP:rs1229984)
- UniProt: Protective (in dbSNP:rs1229984)
- Most common in the HGDP:BANTUSOUTHAFRICA population (allele frequency 1)
- Structural context available
- Cited in: Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID 14702039)
- Cited in: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID 15489334)