G10A (p.Gly10Ala) variant of KCNQ4 (P56696)
G10A (p.Gly10Ala) in KCNQ4 (P56696) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
G10A (p.Gly10Ala) variant details
- p.Gly10Ala
- gnomAD rs1374479325
- Missense
- Variant Prioritization Score for Impact Estimate 0.512
- REVEL 0.36
- MetaLR 0.79
- MetaSVM 0.55
- CADD 22.90
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available