P107A (p.Pro107Ala) variant of ADH1B (P00325)
P107A (p.Pro107Ala) 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 0.37 / 1. The record also includes population frequency data and structural context.
P107A (p.Pro107Ala) variant details
- p.Pro107Ala
- rs369184871
- ClinGen CA3020009
- ClinVar RCV004382749
- ESP rs369184871
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.374
- REVEL 0.15
- CADD 22.00
- PolyPhen-2 0.67
- 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 6.5e-05)
- Structural context available