P112T (p.Pro112Thr) variant of SERPINA1 (Alpha-1-antitrypsin)
P112T (p.Pro112Thr) in SERPINA1 (Alpha-1-antitrypsin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
P112T (p.Pro112Thr) variant details
- p.Pro112Thr
- rs886044322
- ClinGen CA10606617
- ClinVar RCV000333385
- UniProt VAR 006989
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.187
- REVEL 0.28
- CADD 0.02
- PolyPhen-2 0.06
- SIFT 0.42
- ClinVar: Uncertain significance (not provided)
- EBI: Benign (in M5-Berlin)
- UniProt: Benign (in M5-Berlin)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Identification and DNA sequence analysis of 15 new alpha 1-antitrypsin variants, including two PI*Q0 alleles and one… (PMID 7977369)