I23T (p.Ile23Thr) variant of KCNB1 (Q14721)
I23T (p.Ile23Thr) in KCNB1 (Q14721) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
I23T (p.Ile23Thr) variant details
- p.Ile23Thr
- gnomAD rs1315539508
- Missense
- Variant Prioritization Score for Impact Estimate 0.722
- REVEL 0.77
- CADD 28.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available