P27L (p.Pro27Leu) variant of SERPINA1 (Alpha-1-antitrypsin)
P27L (p.Pro27Leu) 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 0.23 / 1. The record also includes population frequency data and structural context.
P27L (p.Pro27Leu) variant details
- p.Pro27Leu
- rs190231439
- ClinGen CA7327549
- cosmic curated COSV10591
- ClinVar RCV000731401
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.228
- REVEL 0.32
- CADD 5.01
- PolyPhen-2 0.00
- SIFT 0.55
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available