K19M (p.Lys19Met) variant of KCNQ5 (Q9NR82)
K19M (p.Lys19Met) in KCNQ5 (Q9NR82) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
K19M (p.Lys19Met) variant details
- p.Lys19Met
- gnomAD 6-72622245-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- REVEL 0.38
- CADD 23.20
- PolyPhen-2 0.15
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available