V44G (p.Val44Gly) variant of KCNB1 (Q14721)
V44G (p.Val44Gly) in KCNB1 (Q14721) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data.
V44G (p.Val44Gly) variant details
- p.Val44Gly
- Ensembl rs878960130
- Missense
- Variant Prioritization Score for Impact Estimate 0.803
- REVEL 0.91
- CADD 29.60
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Middle Eastern population (allele frequency 0.00022)