A68V (p.Ala68Val) variant of PROS1 (Vitamin K-dependent protein S)
A68V (p.Ala68Val) 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 Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data.
A68V (p.Ala68Val) variant details
- p.Ala68Val
- TOPMed rs1268026904
- gnomAD rs1268026904
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.833
- REVEL 0.87
- CADD 27.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance (in THPH5)
- Most common in the Non-Finnish European population (allele frequency 7.4e-05)