I40V (p.Ile40Val) variant of PRKCA (Protein kinase C alpha type)
I40V (p.Ile40Val) in PRKCA (Protein kinase C alpha type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
I40V (p.Ile40Val) variant details
- p.Ile40Val
- gnomAD 17-66302969-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.20
- CADD 21.80
- PolyPhen-2 0.01
- SIFT 0.51
- Population evidence available
- Structural context available
- Literature evidence available