L16P (p.Leu16Pro) variant of PROS1 (Vitamin K-dependent protein S)
L16P (p.Leu16Pro) 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 recessive. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1.
L16P (p.Leu16Pro) variant details
- p.Leu16Pro
- rs1709925832
- ClinGen CA353674245
- ClinVar RCV001040853
- Ensembl rs1709925832
- Uncertain significance
- Thrombophilia due to protein S deficiency, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.53
- AlphaMissense 0.18
- MetaLR 0.73
- MetaSVM -0.17
- PolyPhen-2 0.26
- SIFT 0.20
- MutPred 0.69
- ClinVar: Uncertain significance (Thrombophilia due to protein S deficiency, autosomal recessive)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance