E22D (p.Glu22Asp) variant of KCNB1 (Q14721)
E22D (p.Glu22Asp) in KCNB1 (Q14721) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
E22D (p.Glu22Asp) variant details
- p.Glu22Asp
- ExAC rs745635029
- gnomAD rs745635029
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- REVEL 0.24
- CADD 16.80
- PolyPhen-2 0.00
- SIFT 1.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 2.8e-06)
- Structural context available