G21S (p.Gly21Ser) variant of KCNQ5 (Q9NR82)
G21S (p.Gly21Ser) in KCNQ5 (Q9NR82) 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 0.38 / 1. The record also includes population frequency data and structural context.
G21S (p.Gly21Ser) variant details
- p.Gly21Ser
- TOPMed rs1449413875
- gnomAD rs1449413875
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.38
- CADD 17.60
- PolyPhen-2 0.00
- SIFT 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available