L8A (p.Leu8Ala) variant of PROC (Vitamin K-dependent protein C)
L8A (p.Leu8Ala) in PROC (Vitamin K-dependent protein C) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
L8A (p.Leu8Ala) variant details
- p.Leu8Ala
- rs1375703057
- gnomAD 2-127419963-CCT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.317
- CADD 23.10
- Population evidence available
- Structural context available
- Literature evidence available