V14I (p.Val14Ile) variant of PRKCH (Protein kinase C eta type)
V14I (p.Val14Ile) 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.
V14I (p.Val14Ile) variant details
- p.Val14Ile
- gnomAD 14-61322141-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.08
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.02
- MetaSVM -1.06
- CADD 21.20
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available