N9D (p.Asn9Asp) variant of PRKCH (Protein kinase C eta type)
N9D (p.Asn9Asp) in PRKCH (Protein kinase C eta type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
N9D (p.Asn9Asp) variant details
- p.Asn9Asp
- gnomAD 14-61322126-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- REVEL 0.11
- ESM-1b 0.00
- AlphaMissense 0.21
- MetaLR 0.04
- MetaSVM -1.13
- CADD 24.30
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Literature evidence available