K40Q (p.Lys40Gln) variant of KCNJ3 (P48549)
K40Q (p.Lys40Gln) in KCNJ3 (P48549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
K40Q (p.Lys40Gln) variant details
- p.Lys40Gln
- gnomAD 2-154698893-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- REVEL 0.29
- CADD 24.20
- PolyPhen-2 0.61
- SIFT 0.07
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- Literature evidence available