M6K (p.Met6Lys) variant of PRKCH (Protein kinase C eta type)
M6K (p.Met6Lys) in PRKCH (Protein kinase C eta type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
M6K (p.Met6Lys) variant details
- p.Met6Lys
- gnomAD 14-61322118-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.29
- ESM-1b 0.00
- AlphaMissense 0.45
- MetaLR 0.24
- MetaSVM -0.53
- CADD 25.60
- Most common in the East Asian population (allele frequency 2.6e-05)
- Structural context available
- Literature evidence available