A12V (p.Ala12Val) variant of PRKCA (Protein kinase C alpha type)
A12V (p.Ala12Val) in PRKCA (Protein kinase C alpha type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
A12V (p.Ala12Val) variant details
- p.Ala12Val
- gnomAD 17-66302886-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.181
- REVEL 0.06
- CADD 19.40
- PolyPhen-2 0.00
- SIFT 0.35
- Population evidence available
- Structural context available
- Literature evidence available