A15T (p.Ala15Thr) variant of SERPINE1 (P05121)
A15T (p.Ala15Thr) in SERPINE1 (P05121) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not specified; not provided; Congenital plasminogen activator inhibitor type 1 d. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
A15T (p.Ala15Thr) variant details
- p.Ala15Thr
- rs6092
- ClinGen CA123260
- ClinVar RCV000014541
- ClinVar RCV001530150
- Benign/Likely benign
- not specified; not provided; Congenital plasminogen activator inhibitor type 1 d
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.36
- CADD 16.30
- PolyPhen-2 0.06
- SIFT 0.32
- ClinVar: Benign/Likely benign (not specified; not provided; Congenital plasminogen activator in)
- EBI: Benign (in dbSNP:rs6092)
- UniProt: Benign (in dbSNP:rs6092)
- Most common in the HGDP:PAPUANHIGHLANDS population (allele frequency 1)
- Structural context available
- Cited in: Characterization of single-nucleotide polymorphisms in coding regions of human genes. (PMID 10391209)
- Cited in: A case of deficiency of plasma plasminogen activator inhibitor-1 related to Ala15Thr mutation in its signal peptide. (PMID 15650551)