R3P (p.Arg3Pro) variant of KCNQ5 (Q9NR82)
R3P (p.Arg3Pro) in KCNQ5 (Q9NR82) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
R3P (p.Arg3Pro) variant details
- p.Arg3Pro
- gnomAD 6-72622196-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.735
- CADD 31.00
- Population evidence available
- Structural context available
- Literature evidence available