P43A (p.Pro43Ala) variant of PRKCH (Protein kinase C eta type)
P43A (p.Pro43Ala) in PRKCH (Protein kinase C eta type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
P43A (p.Pro43Ala) variant details
- p.Pro43Ala
- rs377056504
- gnomAD 14-61327146-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- REVEL 0.16
- ESM-1b 0.00
- AlphaMissense 0.39
- MetaLR 0.35
- MetaSVM -0.67
- CADD 3.23
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available