T51I (p.Thr51Ile) variant of SERPINA1 (Alpha-1-antitrypsin)
T51I (p.Thr51Ile) 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 0.35 / 1. The record also includes population frequency data and structural context.
T51I (p.Thr51Ile) variant details
- p.Thr51Ile
- NCI-TCGA Cosmic COSV6334
- cosmic curated COSV63346
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- REVEL 0.32
- CADD 12.10
- PolyPhen-2 0.01
- SIFT 0.06
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available