V17I (p.Val17Ile) variant of SERPINE1 (P05121)
V17I (p.Val17Ile) in SERPINE1 (P05121) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
V17I (p.Val17Ile) variant details
- p.Val17Ile
- rs6090
- ClinGen CA4405511
- ClinVar RCV000325357
- ClinVar RCV001653713
- Benign
- not specified; not provided; Congenital plasminogen activator inhibitor type 1 d
- Missense
- Variant Prioritization Score for Impact Estimate 0.108
- REVEL 0.14
- CADD 0.02
- PolyPhen-2 0.00
- SIFT 0.55
- ClinVar: Benign (not specified; not provided; Congenital plasminogen activator in)
- EBI: Benign (in dbSNP:rs6090)
- UniProt: Benign (in dbSNP:rs6090)
- Most common in the HGDP:DAI population (allele frequency 0.17)
- Structural context available
- Cited in: Characterization of single-nucleotide polymorphisms in coding regions of human genes. (PMID 10391209)
- Cited in: Complete Plasminogen Activator Inhibitor 1 Deficiency. (PMID 28771291)