N258S (p.Asn258Ser) variant of PROS1 (Vitamin K-dependent protein S)
N258S (p.Asn258Ser) in PROS1 (Vitamin K-dependent protein S) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Thrombophilia due to protein S deficiency, autosomal dominant. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
N258S (p.Asn258Ser) variant details
- p.Asn258Ser
- rs121918473
- ClinGen CA123031
- ClinVar RCV000014245
- UniProt VAR 005567
- Pathogenic
- Thrombophilia due to protein S deficiency, autosomal dominant
- Missense
- Variant Prioritization Score for Impact Estimate 0.774
- REVEL 0.87
- CADD 25.70
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic (Thrombophilia due to protein S deficiency, autosomal dominant)
- EBI: Pathogenic (in THPH5)
- UniProt: Pathogenic (in THPH5)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Genetic and phenotypic variability between families with hereditary protein S deficiency. (PMID 11858485)
- Cited in: Detection and characterization of seven novel protein S (PROS) gene lesions: evaluation of reverse… (PMID 7545463)