H31L (p.His31Leu) variant of PRKCH (Protein kinase C eta type)
H31L (p.His31Leu) in PRKCH (Protein kinase C eta type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
H31L (p.His31Leu) variant details
- p.His31Leu
- gnomAD 14-61322193-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- REVEL 0.30
- ESM-1b 1.00
- AlphaMissense 0.34
- MetaLR 0.04
- MetaSVM -1.13
- CADD 25.70
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available