S4P (p.Ser4Pro) variant of SERPINA1 (Alpha-1-antitrypsin)
S4P (p.Ser4Pro) in SERPINA1 (Alpha-1-antitrypsin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
S4P (p.Ser4Pro) variant details
- p.Ser4Pro
- TOPMed rs1259380442
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- REVEL 0.47
- CADD 20.60
- PolyPhen-2 0.26
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available