R90P (p.Arg90Pro) variant of PROS1 (Vitamin K-dependent protein S)
R90P (p.Arg90Pro) 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 0.60 / 1. The record also includes population frequency data.
R90P (p.Arg90Pro) variant details
- p.Arg90Pro
- rs200886866
- ClinGen CA353674139
- ClinVar RCV001205963
- ExAC rs200886866
- Uncertain significance
- Thrombophilia due to protein S deficiency, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.604
- REVEL 0.62
- CADD 23.20
- PolyPhen-2 0.22
- SIFT 0.05
- ClinVar: Uncertain significance (Thrombophilia due to protein S deficiency, autosomal recessive)
- EBI: Variant of uncertain significance (in THPH5)
- UniProt: Uncertain significance (in THPH5)
- Most common in the Non-Finnish European population (allele frequency 9e-07)