G30R (p.Gly30Arg) variant of KCNQ5 (Q9NR82)
G30R (p.Gly30Arg) in KCNQ5 (Q9NR82) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
G30R (p.Gly30Arg) variant details
- p.Gly30Arg
- ExAC rs752456265
- TOPMed rs752456265
- gnomAD rs752456265
- Missense
- Variant Prioritization Score for Impact Estimate 0.494
- REVEL 0.39
- CADD 22.00
- PolyPhen-2 0.00
- SIFT 0.83
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available