G12R (p.Gly12Arg) variant of KCNQ5 (Q9NR82)
G12R (p.Gly12Arg) in KCNQ5 (Q9NR82) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
G12R (p.Gly12Arg) variant details
- p.Gly12Arg
- gnomAD 6-72622223-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.562
- REVEL 0.48
- CADD 24.90
- PolyPhen-2 0.40
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available
- Literature evidence available