A19V (p.Ala19Val) variant of PRKCH (Protein kinase C eta type)
A19V (p.Ala19Val) in PRKCH (Protein kinase C eta type) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of PRKCH-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
A19V (p.Ala19Val) variant details
- p.Ala19Val
- rs55645551
- UniProt VAR 042312
- 1000Genomes rs55645551
- ESP rs55645551
- Likely benign
- PRKCH-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.54
- REVEL 0.34
- ESM-1b 1.00
- AlphaMissense 0.62
- MetaLR 0.25
- MetaSVM -0.39
- CADD 28.60
- ClinVar: Likely benign (PRKCH-related disorder)
- UniProt: Likely benign (in dbSNP:rs55645551)
- Most common in the HGDP:ADYGEI population (allele frequency 0.031)
- Structural context available
- Cited in: Patterns of somatic mutation in human cancer genomes. (PMID 17344846)