P14Q (p.Pro14Gln) variant of KCNQ4 (P56696)
P14Q (p.Pro14Gln) in KCNQ4 (P56696) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
P14Q (p.Pro14Gln) variant details
- p.Pro14Gln
- gnomAD 1-40784134-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.542
- REVEL 0.37
- MetaLR 0.83
- MetaSVM 0.40
- CADD 18.10
- PolyPhen-2 0.01
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 1.4e-06)
- Structural context available
- Literature evidence available