G21C (p.Gly21Cys) variant of KCNQ5 (Q9NR82)
G21C (p.Gly21Cys) in KCNQ5 (Q9NR82) 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 0.46 / 1. The record also includes population frequency data and structural context.
G21C (p.Gly21Cys) variant details
- p.Gly21Cys
- rs1449413875
- ClinGen CA364824075
- ClinVar RCV001894151
- TOPMed rs1449413875
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.458
- REVEL 0.49
- CADD 23.50
- PolyPhen-2 0.16
- SIFT 0.05
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available