I72T (p.Ile72Thr) variant of PROC (Vitamin K-dependent protein C)
I72T (p.Ile72Thr) in PROC (Vitamin K-dependent protein C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
I72T (p.Ile72Thr) variant details
- p.Ile72Thr
- gnomAD 2-127421427-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.784
- REVEL 0.95
- CADD 27.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available