V18V (p.Val18Val) variant of KCNQ5 (Q9NR82)
V18V (p.Val18Val) in KCNQ5 (Q9NR82) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
V18V (p.Val18Val) variant details
- p.Val18Val
- gnomAD 6-72622243-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.59
- CADD 14.70
- Population evidence available
- Structural context available
- Literature evidence available