P667L (p.Pro667Leu) variant of PROS1 (Vitamin K-dependent protein S)
P667L (p.Pro667Leu) 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 recessive; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
P667L (p.Pro667Leu) variant details
- p.Pro667Leu
- rs1220553873
- UniProt VAR 046891
- gnomAD rs1220553873
- Pathogenic
- Thrombophilia due to protein S deficiency, autosomal recessive; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.852
- REVEL 0.90
- CADD 27.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Thrombophilia due to protein S deficiency, autosomal recessive;)
- EBI: Pathogenic (in THPH5)
- UniProt: Pathogenic (in THPH5)
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: Optimization of a simple and rapid single-strand conformation analysis for detection of mutations in the PROS1 gene… (PMID 10790208)
- Cited in: Identification of protein Salpha gene mutations including four novel mutations in eight unrelated patients with protein… (PMID 15238143)