I111V (p.Ile111Val) variant of SERPINA1 (Alpha-1-antitrypsin)
I111V (p.Ile111Val) 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 0.26 / 1. The record also includes population frequency data and structural context.
I111V (p.Ile111Val) variant details
- p.Ile111Val
- NCI-TCGA Cosmic COSV1008
- cosmic curated COSV10087
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.26
- REVEL 0.13
- CADD 1.08
- PolyPhen-2 0.01
- SIFT 0.71
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available