P15R (p.Pro15Arg) variant of KCNQ4 (P56696)
P15R (p.Pro15Arg) in KCNQ4 (P56696) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
P15R (p.Pro15Arg) variant details
- p.Pro15Arg
- gnomAD 1-40784129-TCCCCC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.368
- CADD 25.00
- Population evidence available
- Structural context available
- Literature evidence available