P82L (p.Pro82Leu) variant of KCNQ3 (O43525)
P82L (p.Pro82Leu) in KCNQ3 (O43525) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
P82L (p.Pro82Leu) variant details
- p.Pro82Leu
- gnomAD rs1822518084
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- REVEL 0.40
- CADD 22.90
- PolyPhen-2 0.09
- SIFT 0.12
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available