E25K (p.Glu25Lys) variant of SERPINA1 (Alpha-1-antitrypsin)
E25K (p.Glu25Lys) 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 0.32 / 1. The record also includes population frequency data and structural context.
E25K (p.Glu25Lys) variant details
- p.Glu25Lys
- rs766542592
- ClinGen CA7327553
- ClinVar RCV000728979
- ExAC rs766542592
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.39
- CADD 0.75
- PolyPhen-2 0.06
- SIFT 0.15
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available