P112S (p.Pro112Ser) variant of SERPINA1 (Alpha-1-antitrypsin)
P112S (p.Pro112Ser) in SERPINA1 (Alpha-1-antitrypsin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
P112S (p.Pro112Ser) variant details
- p.Pro112Ser
- rs886044322
- ClinGen CA390850277
- ClinVar RCV000732508
- TOPMed rs886044322
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.201
- REVEL 0.29
- CADD 0.00
- PolyPhen-2 0.02
- SIFT 1.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance (in M5-Berlin)
- UniProt: Uncertain significance (in M5-Berlin)
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available