D62N (p.Asp62Asn) variant of KCNB1 (Q14721)
D62N (p.Asp62Asn) in KCNB1 (Q14721) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
D62N (p.Asp62Asn) variant details
- p.Asp62Asn
- ExAC rs750685018
- gnomAD rs750685018
- Missense
- Variant Prioritization Score for Impact Estimate 0.51
- REVEL 0.32
- CADD 25.30
- PolyPhen-2 0.95
- SIFT 0.07
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available