A18D (p.Ala18Asp) variant of KCNQ4 (P56696)
A18D (p.Ala18Asp) in KCNQ4 (P56696) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
A18D (p.Ala18Asp) variant details
- p.Ala18Asp
- TOPMed rs1347676173
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- REVEL 0.34
- MetaLR 0.77
- MetaSVM 0.37
- CADD 16.10
- PolyPhen-2 0.00
- SIFT 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 3.7e-05)
- Structural context available