A69A (p.Ala69Ala) variant of PROC (Vitamin K-dependent protein C)
A69A (p.Ala69Ala) in PROC (Vitamin K-dependent protein C) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
A69A (p.Ala69Ala) variant details
- p.Ala69Ala
- rs1688084116
- gnomAD 2-127421419-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.459
- CADD 11.40
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Literature evidence available