L23I (p.Leu23Ile) variant of KCNQ4 (P56696)
L23I (p.Leu23Ile) in KCNQ4 (P56696) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
L23I (p.Leu23Ile) variant details
- p.Leu23Ile
- TOPMed rs1406640097
- gnomAD rs1406640097
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- REVEL 0.21
- MetaLR 0.82
- MetaSVM 0.34
- CADD 17.00
- PolyPhen-2 0.01
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 4.9e-05)
- Structural context available