A41P (p.Ala41Pro) variant of KCNB1 (Q14721)
A41P (p.Ala41Pro) in KCNB1 (Q14721) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data.
A41P (p.Ala41Pro) variant details
- p.Ala41Pro
- ExAC rs755023671
- gnomAD rs755023671
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- REVEL 0.21
- CADD 22.50
- PolyPhen-2 0.02
- SIFT 0.28
- Most common in the REMAINING population (allele frequency 1.7e-05)