G28R (p.Gly28Arg) variant of KCNQ5 (Q9NR82)
G28R (p.Gly28Arg) 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 0.41 / 1. The record also includes population frequency data and structural context.
G28R (p.Gly28Arg) variant details
- p.Gly28Arg
- rs2098915594
- ClinGen CA364824115
- ClinVar RCV002303853
- Ensembl rs2098915594
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- REVEL 0.43
- CADD 22.30
- PolyPhen-2 0.01
- SIFT 0.18
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.6e-05)
- Structural context available