T5A (p.Thr5Ala) variant of PRKCH (Protein kinase C eta type)
T5A (p.Thr5Ala) in PRKCH (Protein kinase C eta type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
T5A (p.Thr5Ala) variant details
- p.Thr5Ala
- ExAC rs765167007
- gnomAD rs765167007
- Missense
- Variant Prioritization Score for Impact Estimate 0.216
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.12
- MetaSVM -0.98
- CADD 19.10
- Most common in the Latino/Admixed American population (allele frequency 2.5e-05)
- Structural context available