P33R (p.Pro33Arg) variant of MERTK (Tyrosine-protein kinase Mer)
P33R (p.Pro33Arg) in MERTK (Tyrosine-protein kinase Mer) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
P33R (p.Pro33Arg) variant details
- p.Pro33Arg
- rs1407749594
- gnomAD 2-111929153-AC-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.192
- CADD 15.70
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Literature evidence available