S48N (p.Ser48Asn) variant of PRKCH (Protein kinase C eta type)
S48N (p.Ser48Asn) in PRKCH (Protein kinase C eta type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
S48N (p.Ser48Asn) variant details
- p.Ser48Asn
- gnomAD 14-61322244-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.14
- ESM-1b 0.00
- AlphaMissense 0.15
- MetaLR 0.09
- MetaSVM -0.99
- CADD 21.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available