Q51R (p.Gln51Arg) variant of PRKCH (Protein kinase C eta type)
Q51R (p.Gln51Arg) in PRKCH (Protein kinase C eta type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
Q51R (p.Gln51Arg) variant details
- p.Gln51Arg
- gnomAD 14-61322253-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- REVEL 0.20
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.03
- MetaSVM -1.03
- CADD 25.30
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available