P92L (p.Pro92Leu) variant of ADH1B (P00325)
P92L (p.Pro92Leu) 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 0.36 / 1. The record also includes population frequency data and structural context.
P92L (p.Pro92Leu) variant details
- p.Pro92Leu
- rs767886585
- ClinGen CA3020021
- ClinVar RCV004179232
- ExAC rs767886585
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.21
- CADD 23.90
- PolyPhen-2 0.13
- SIFT 0.05
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available