W16R (p.Trp16Arg) variant of ADH1B (P00325)
W16R (p.Trp16Arg) in ADH1B (P00325) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
W16R (p.Trp16Arg) variant details
- p.Trp16Arg
- rs113075608
- ClinGen CA3020094
- ClinVar RCV000961559
- 1000Genomes rs113075608
- Benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.30
- CADD 25.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Benign (not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:BANTUSOUTHAFRICA population (allele frequency 0.062)
- Structural context available