D58A (p.Asp58Ala) variant of KCNJ11 (Q14654)
D58A (p.Asp58Ala) in KCNJ11 (Q14654) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
D58A (p.Asp58Ala) variant details
- p.Asp58Ala
- gnomAD 11-17387919-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.854
- REVEL 0.99
- CADD 30.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available