D67A (p.Asp67Ala) variant of KCNB1 (Q14721)
D67A (p.Asp67Ala) in KCNB1 (Q14721) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data.
D67A (p.Asp67Ala) variant details
- p.Asp67Ala
- TOPMed rs1191148690
- gnomAD rs1191148690
- Missense
- Variant Prioritization Score for Impact Estimate 0.638
- REVEL 0.66
- CADD 24.80
- PolyPhen-2 0.16
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 7.3e-05)