N53S (p.Asn53Ser) variant of SERPINA1 (Alpha-1-antitrypsin)
N53S (p.Asn53Ser) in SERPINA1 (Alpha-1-antitrypsin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
N53S (p.Asn53Ser) variant details
- p.Asn53Ser
- TOPMed rs758914650
- gnomAD rs758914650
- Missense
- Variant Prioritization Score for Impact Estimate 0.184
- REVEL 0.27
- CADD 0.27
- PolyPhen-2 0.00
- SIFT 0.65
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available