D50H (p.Asp50His) variant of KCNB1 (Q14721)
D50H (p.Asp50His) in KCNB1 (Q14721) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data.
D50H (p.Asp50His) variant details
- p.Asp50His
- gnomAD rs1467898135
- Missense
- Variant Prioritization Score for Impact Estimate 0.654
- REVEL 0.55
- CADD 27.60
- PolyPhen-2 0.98
- SIFT 0.01
- Most common in the South Asian population (allele frequency 8.2e-05)