P107L (p.Pro107Leu) variant of ADH1B (P00325)
P107L (p.Pro107Leu) in ADH1B (P00325) is a missense change. Clinical records from ClinVar, EBI, 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 0.44 / 1. The record also includes population frequency data and structural context.
P107L (p.Pro107Leu) variant details
- p.Pro107Leu
- rs148622183
- ClinGen CA3020008
- cosmic curated COSV10439
- ClinVar RCV004159746
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- REVEL 0.25
- CADD 23.50
- PolyPhen-2 0.96
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0032)
- Structural context available