N105D (p.Asn105Asp) variant of SERPINA1 (Alpha-1-antitrypsin)
N105D (p.Asn105Asp) in SERPINA1 (Alpha-1-antitrypsin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
N105D (p.Asn105Asp) variant details
- p.Asn105Asp
- ExAC rs757510628
- TOPMed rs757510628
- gnomAD rs757510628
- Missense
- Variant Prioritization Score for Impact Estimate 0.17
- REVEL 0.24
- CADD 0.00
- PolyPhen-2 0.01
- SIFT 0.74
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available