K35N (p.Lys35Asn) variant of PRKCH (Protein kinase C eta type)
K35N (p.Lys35Asn) in PRKCH (Protein kinase C eta type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
K35N (p.Lys35Asn) variant details
- p.Lys35Asn
- rs1270724232
- gnomAD 14-61327076-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- REVEL 0.17
- ESM-1b 0.00
- AlphaMissense 0.29
- MetaLR 0.44
- MetaSVM -0.37
- CADD 19.57
- Most common in the South Asian population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available