T49I (p.Thr49Ile) variant of PROS1 (Vitamin K-dependent protein S)
T49I (p.Thr49Ile) 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 0.37 / 1. The record also includes population frequency data.
T49I (p.Thr49Ile) variant details
- p.Thr49Ile
- rs1386488557
- gnomAD rs1386488557
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.41
- CADD 19.30
- PolyPhen-2 0.34
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)