I562L (p.Ile562Leu) variant of PROS1 (Vitamin K-dependent protein S)
I562L (p.Ile562Leu) in PROS1 (Vitamin K-dependent protein S) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Thrombophilia due to protein S deficiency, autosomal recessive. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
I562L (p.Ile562Leu) variant details
- p.Ile562Leu
- rs1380889353
- gnomAD rs1380889353
- ClinGen CA353671417
- ClinVar RCV001986240
- Likely pathogenic
- Thrombophilia due to protein S deficiency, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.45
- CADD 0.01
- PolyPhen-2 0.01
- SIFT 1.00
- ClinVar: Likely pathogenic (Thrombophilia due to protein S deficiency, autosomal recessive)
- EBI: Likely pathogenic (in THPH5)
- UniProt: Likely pathogenic (in THPH5)
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Poor relationship between phenotypes of protein S deficiency and mutations in the protein S alpha gene. (PMID 10613647)
- Cited in: Molecular diversity and thrombotic risk in protein S deficiency: the PROSIT study. (PMID 15712227)