P27S (p.Pro27Ser) variant of SERPINA1 (Alpha-1-antitrypsin)
P27S (p.Pro27Ser) in SERPINA1 (Alpha-1-antitrypsin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
P27S (p.Pro27Ser) variant details
- p.Pro27Ser
- ExAC rs767986567
- gnomAD rs767986567
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- REVEL 0.24
- CADD 0.30
- PolyPhen-2 0.03
- SIFT 0.82
- Most common in the South Asian population (allele frequency 0.00016)
- Structural context available