D20N (p.Asp20Asn) variant of KCNJ11 (Q14654)
D20N (p.Asp20Asn) in KCNJ11 (Q14654) 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, published literature, and structural context.
D20N (p.Asp20Asn) variant details
- p.Asp20Asn
- gnomAD 11-17388034-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.462
- REVEL 0.26
- CADD 22.90
- PolyPhen-2 0.01
- SIFT 0.16
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available