M640T (p.Met640Thr) variant of PROS1 (Vitamin K-dependent protein S)
M640T (p.Met640Thr) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes published literature and structural context.
M640T (p.Met640Thr) variant details
- p.Met640Thr
- rs1708152510
- ClinGen CA353669933
- ClinVar RCV001211450
- Ensembl rs1708152510
- Pathogenic
- Thrombophilia due to protein S deficiency, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.592
- AlphaMissense 0.70
- MetaLR 0.51
- MetaSVM 0.13
- PolyPhen-2 0.76
- SIFT 0.00
- EVE 0.65
- ClinVar: Pathogenic (Thrombophilia due to protein S deficiency, autosomal recessive)
- EBI: Pathogenic (in THPH5)
- UniProt: Pathogenic (in THPH5)
- 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: Functional characterization of twelve natural PROS1 mutations associated with anticoagulant protein S deficiency. (PMID 18322254)