P112L (p.Pro112Leu) variant of SERPINA1 (Alpha-1-antitrypsin)
P112L (p.Pro112Leu) in SERPINA1 (Alpha-1-antitrypsin) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact in the context of in M5-Berlin. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
P112L (p.Pro112Leu) variant details
- p.Pro112Leu
- rs758820515
- NCI-TCGA Cosmic COSV1008
- NCI-TCGA Cosmic COSV6334
- cosmic curated COSV63345
- Variant assessed as somatic; moderate impact.
- in M5-Berlin
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- REVEL 0.28
- CADD 7.59
- PolyPhen-2 0.30
- SIFT 0.17
- UniProt: Variant assessed as somatic; moderate impact. (in M5-Berlin)
- Most common in the South Asian population (allele frequency 9.3e-05)
- Structural context available