D58D (p.Asp58Asp) variant of KCNJ11 (Q14654)
D58D (p.Asp58Asp) in KCNJ11 (Q14654) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
D58D (p.Asp58Asp) variant details
- p.Asp58Asp
- rs1237212288
- gnomAD 11-17387918-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.443
- AlphaMissense 1.00
- MetaLR 0.51
- MetaSVM 0.06
- CADD 9.21
- SIFT 0.00
- MutPred 0.96
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Literature evidence available