P20R (p.Pro20Arg) variant of PROS1 (Vitamin K-dependent protein S)
P20R (p.Pro20Arg) 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 0.64 / 1.
P20R (p.Pro20Arg) variant details
- p.Pro20Arg
- rs1709918238
- ClinGen CA353674207
- ClinVar RCV002294842
- Uncertain significance
- Thrombophilia due to protein S deficiency, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.643
- AlphaMissense 0.16
- MetaLR 0.83
- MetaSVM 0.37
- PolyPhen-2 0.99
- SIFT 0.08
- MutPred 0.53
- ClinVar: Uncertain significance (Thrombophilia due to protein S deficiency, autosomal recessive)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance