R40L (p.Arg40Leu) variant of PROC (Vitamin K-dependent protein C)
R40L (p.Arg40Leu) in PROC (Vitamin K-dependent protein C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
R40L (p.Arg40Leu) variant details
- p.Arg40Leu
- gnomAD 2-127421331-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.49
- CADD 11.30
- PolyPhen-2 0.42
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available