P92S (p.Pro92Ser) variant of ADH1B (P00325)
P92S (p.Pro92Ser) 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 0.30 / 1. The record also includes population frequency data and structural context.
P92S (p.Pro92Ser) variant details
- p.Pro92Ser
- rs1230758917
- ClinGen CA357478420
- NCI-TCGA Cosmic COSV5929
- cosmic curated COSV59298
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.27
- CADD 25.10
- PolyPhen-2 0.64
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.0002)
- Structural context available