E102K (p.Glu102Lys) variant of SERPINA1 (Alpha-1-antitrypsin)
E102K (p.Glu102Lys) in SERPINA1 (Alpha-1-antitrypsin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
E102K (p.Glu102Lys) variant details
- p.Glu102Lys
- gnomAD rs1234126292
- Missense
- Variant Prioritization Score for Impact Estimate 0.26
- REVEL 0.29
- CADD 4.71
- PolyPhen-2 0.06
- SIFT 0.18
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available