V21I (p.Val21Ile) variant of SERPINA1 (Alpha-1-antitrypsin)
V21I (p.Val21Ile) in SERPINA1 (Alpha-1-antitrypsin) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. 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.
V21I (p.Val21Ile) variant details
- p.Val21Ile
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.166
- REVEL 0.25
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.15
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available