E55D (p.Glu55Asp) variant of PROS1 (Vitamin K-dependent protein S)
E55D (p.Glu55Asp) in PROS1 (Vitamin K-dependent protein S) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data.
E55D (p.Glu55Asp) variant details
- p.Glu55Asp
- NCI-TCGA Cosmic COSV6239
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.658
- REVEL 0.90
- CADD 23.80
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)