K59Q (p.Lys59Gln) variant of KCNJ5 (P48544)
K59Q (p.Lys59Gln) in KCNJ5 (P48544) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
K59Q (p.Lys59Gln) variant details
- p.Lys59Gln
- ExAC rs775599482
- gnomAD rs775599482
- Missense
- Variant Prioritization Score for Impact Estimate 0.602
- REVEL 0.60
- MetaLR 0.77
- MetaSVM 0.43
- CADD 23.70
- PolyPhen-2 0.88
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available