M1? variant of PROS1 (Vitamin K-dependent protein S)
M1? in PROS1 (Vitamin K-dependent protein S) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1.
M1? variant details
- rs1403076049
- ClinGen CA353674385
- NCI-TCGA Cosmic COSV6239
- ClinVar RCV002035461
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.895
- MetaLR 0.86
- MetaSVM 0.87
- PolyPhen-2 0.85
- SIFT 0.00
- MutPred 0.99
- EBI: Pathogenic
- UniProt: Pathogenic