D120N (p.Asp120Asn) variant of KCNB1 (Q14721)
D120N (p.Asp120Asn) in KCNB1 (Q14721) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data.
D120N (p.Asp120Asn) variant details
- p.Asp120Asn
- cosmic curated COSV99056
- Missense
- Variant Prioritization Score for Impact Estimate 0.61
- REVEL 0.47
- CADD 28.10
- PolyPhen-2 0.90
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9e-07)