T5N (p.Thr5Asn) variant of PRKCH (Protein kinase C eta type)
T5N (p.Thr5Asn) in PRKCH (Protein kinase C eta type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
T5N (p.Thr5Asn) variant details
- p.Thr5Asn
- gnomAD 14-61322115-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.203
- REVEL 0.12
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.15
- MetaSVM -1.03
- CADD 16.00
- Population evidence available
- Structural context available
- Literature evidence available