R3H (p.Arg3His) variant of KCNQ5 (Q9NR82)
R3H (p.Arg3His) in KCNQ5 (Q9NR82) is a missense 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.
R3H (p.Arg3His) variant details
- p.Arg3His
- gnomAD 6-72622197-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.524
- REVEL 0.49
- CADD 25.10
- PolyPhen-2 0.07
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available
- Literature evidence available