P6Q (p.Pro6Gln) variant of KCNQ4 (P56696)
P6Q (p.Pro6Gln) in KCNQ4 (P56696) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
P6Q (p.Pro6Gln) variant details
- p.Pro6Gln
- TOPMed rs1478347910
- gnomAD rs1478347910
- Missense
- Variant Prioritization Score for Impact Estimate 0.462
- REVEL 0.34
- MetaLR 0.79
- MetaSVM 0.46
- CADD 22.10
- PolyPhen-2 0.01
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 6.1e-05)
- Structural context available