H48P (p.His48Pro) variant of ADH1B (P00325)
H48P (p.His48Pro) 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 0.20 / 1. The record also includes population frequency data and structural context.
H48P (p.His48Pro) variant details
- p.His48Pro
- 1000Genomes rs1229984
- ESP rs1229984
- ExAC rs1229984
- TOPMed rs1229984
- Protective
- Missense
- Variant Prioritization Score for Impact Estimate 0.204
- REVEL 0.09
- AlphaMissense 0.26
- MetaLR 0.00
- MetaSVM -1.00
- CADD 17.20
- PolyPhen-2 0.06
- EBI: Protective (in dbSNP:rs1229984)
- UniProt: Protective (in dbSNP:rs1229984)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available