L22P (p.Leu22Pro) variant of PRKCH (Protein kinase C eta type)
L22P (p.Leu22Pro) in PRKCH (Protein kinase C eta type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
L22P (p.Leu22Pro) variant details
- p.Leu22Pro
- rs2045707089
- gnomAD 14-61327054-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- REVEL 0.25
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.47
- MetaSVM -0.23
- CADD 19.54
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available
- Literature evidence available