G12A (p.Gly12Ala) variant of KCNQ5 (Q9NR82)
G12A (p.Gly12Ala) in KCNQ5 (Q9NR82) is a missense change. Clinical records from ClinVar 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 0.57 / 1. The record also includes population frequency data and structural context.
G12A (p.Gly12Ala) variant details
- p.Gly12Ala
- rs1013371738
- TOPMed rs1013371738
- gnomAD rs1013371738
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.569
- REVEL 0.51
- CADD 23.80
- PolyPhen-2 0.07
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available