G10D (p.Gly10Asp) variant of KCNQ4 (P56696)
G10D (p.Gly10Asp) in KCNQ4 (P56696) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
G10D (p.Gly10Asp) variant details
- p.Gly10Asp
- gnomAD 1-40784122-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.533
- REVEL 0.39
- MetaLR 0.82
- MetaSVM 0.62
- CADD 23.10
- PolyPhen-2 0.01
- SIFT 0.62
- Most common in the Non-Finnish European population (allele frequency 1.5e-06)
- Structural context available
- Literature evidence available