K34Q (p.Lys34Gln) variant of SERPINA1 (Alpha-1-antitrypsin)
K34Q (p.Lys34Gln) 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 0.21 / 1. The record also includes population frequency data and structural context.
K34Q (p.Lys34Gln) variant details
- p.Lys34Gln
- rs769267062
- ClinGen CA7327547
- ClinVar RCV003480096
- ExAC rs769267062
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.211
- REVEL 0.18
- CADD 12.70
- PolyPhen-2 0.01
- SIFT 0.14
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available