M1L (p.Met1Leu) variant of PROS1 (Vitamin K-dependent protein S)
M1L (p.Met1Leu) in PROS1 (Vitamin K-dependent protein S) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1.
M1L (p.Met1Leu) variant details
- p.Met1Leu
- rs2107279275
- ClinGen CA353674391
- ClinVar RCV001377708
- Likely pathogenic
- not provided
- 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: Likely pathogenic (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic