P20T (p.Pro20Thr) variant of SERPINA1 (Alpha-1-antitrypsin)
P20T (p.Pro20Thr) in SERPINA1 (Alpha-1-antitrypsin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
P20T (p.Pro20Thr) variant details
- p.Pro20Thr
- Ensembl rs1595615236
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- REVEL 0.28
- CADD 7.20
- PolyPhen-2 0.12
- SIFT 0.07
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available