M6L (p.Met6Leu) variant of PRKCH (Protein kinase C eta type)
M6L (p.Met6Leu) in PRKCH (Protein kinase C eta type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
M6L (p.Met6Leu) variant details
- p.Met6Leu
- rs1019611219
- gnomAD 14-61327011-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.123
- REVEL 0.10
- ESM-1b 0.00
- AlphaMissense 0.22
- MetaLR 0.16
- MetaSVM -0.95
- CADD 0.02
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available