A18S (p.Ala18Ser) variant of KCNQ4 (P56696)
A18S (p.Ala18Ser) in KCNQ4 (P56696) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
A18S (p.Ala18Ser) variant details
- p.Ala18Ser
- rs2523790198
- ClinGen CA2580062739
- ClinVar RCV002659386
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.449
- REVEL 0.34
- MetaLR 0.77
- MetaSVM 0.11
- CADD 13.90
- PolyPhen-2 0.00
- SIFT 0.30
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available