R3R (p.Arg3Arg) variant of KCNQ5 (Q9NR82)
R3R (p.Arg3Arg) in KCNQ5 (Q9NR82) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
R3R (p.Arg3Arg) variant details
- p.Arg3Arg
- gnomAD 6-72622198-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.518
- CADD 16.00
- Population evidence available
- Structural context available
- Literature evidence available