A33P (p.Ala33Pro) variant of KCNJ11 (Q14654)
A33P (p.Ala33Pro) in KCNJ11 (Q14654) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
A33P (p.Ala33Pro) variant details
- p.Ala33Pro
- rs1197452068
- gnomAD 11-17387994-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.776
- CADD 27.30
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available