R38P (p.Arg38Pro) variant of ADH1B (P00325)
R38P (p.Arg38Pro) in ADH1B (P00325) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
R38P (p.Arg38Pro) variant details
- p.Arg38Pro
- ExAC rs777100313
- TOPMed rs777100313
- gnomAD rs777100313
- Missense
- Variant Prioritization Score for Impact Estimate 0.555
- REVEL 0.48
- CADD 24.60
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available