P13V (p.Pro13Val) variant of KCNQ4 (P56696)
P13V (p.Pro13Val) in KCNQ4 (P56696) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
P13V (p.Pro13Val) variant details
- p.Pro13Val
- gnomAD 1-40784127-G-GGC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.502
- CADD 25.40
- Most common in the Non-Finnish European population (allele frequency 1.5e-06)
- Structural context available
- Literature evidence available