L69P (p.Leu69Pro) variant of KCNQ3 (O43525)
L69P (p.Leu69Pro) in KCNQ3 (O43525) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
L69P (p.Leu69Pro) variant details
- p.Leu69Pro
- ExAC rs763182139
- gnomAD rs763182139
- Missense
- Variant Prioritization Score for Impact Estimate 0.587
- REVEL 0.58
- CADD 26.10
- PolyPhen-2 0.45
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available