V103I (p.Val103Ile) variant of ADH1B (P00325)
V103I (p.Val103Ile) in ADH1B (P00325) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.04 / 1. The record also includes population frequency data and structural context.
V103I (p.Val103Ile) variant details
- p.Val103Ile
- cosmic curated COSV10736
- ExAC rs771842423
- gnomAD rs771842423
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.0372
- REVEL 0.02
- CADD 0.73
- PolyPhen-2 0.00
- SIFT 0.12
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available