M1V (p.Met1Val) variant of PROS1 (Vitamin K-dependent protein S)
M1V (p.Met1Val) 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 0.76 / 1.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs2107279275
- ClinGen CA353674392
- ClinVar RCV003528502
- Pathogenic
- Thrombophilia due to protein S deficiency, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.761
- MetaLR 0.77
- MetaSVM 0.62
- PolyPhen-2 0.52
- SIFT 0.00
- MutPred 0.99
- ClinVar: Pathogenic (Thrombophilia due to protein S deficiency, autosomal recessive)
- EBI: Pathogenic
- UniProt: Pathogenic