K50T (p.Lys50Thr) variant of PROS1 (Vitamin K-dependent protein S)
K50T (p.Lys50Thr) in PROS1 (Vitamin K-dependent protein S) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Thrombophilia due to protein S deficiency, autosomal dominant; Thrombophilia due. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and published literature.
K50T (p.Lys50Thr) variant details
- p.Lys50Thr
- rs745579260
- ClinGen CA2503582
- ClinVar RCV000461718
- ClinVar RCV004796187
- Uncertain significance
- Thrombophilia due to protein S deficiency, autosomal dominant; Thrombophilia due
- Missense
- Variant Prioritization Score for Impact Estimate 0.761
- REVEL 0.74
- CADD 24.00
- PolyPhen-2 0.76
- SIFT 0.00
- ClinVar: Uncertain significance (Thrombophilia due to protein S deficiency, autosomal dominant; T)
- EBI: Variant of uncertain significance (in THPH5)
- UniProt: Uncertain significance (in THPH5)
- Most common in the East Asian population (allele frequency 0.0001)
- Cited in: The management of depression during pregnancy: a report from the American Psychiatric Association and the American… (PMID 20027064)