E60K (p.Glu60Lys) variant of PROS1 (Vitamin K-dependent protein S)
E60K (p.Glu60Lys) in PROS1 (Vitamin K-dependent protein S) is a missense change. Clinical records from ClinVar 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 0.83 / 1. The record also includes population frequency data.
E60K (p.Glu60Lys) variant details
- p.Glu60Lys
- rs758232970
- NCI-TCGA Cosmic COSV6239
- ExAC rs758232970
- TOPMed rs758232970
- Uncertain significance
- Thrombophilia due to protein S deficiency, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.833
- REVEL 0.94
- CADD 27.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Thrombophilia due to protein S deficiency, autosomal recessive)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 8.1e-05)