V49C (p.Val49Cys) variant of KCNE2 (Q9Y6J6)
V49C (p.Val49Cys) in KCNE2 (Q9Y6J6) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
V49C (p.Val49Cys) variant details
- p.Val49Cys
- rs751276927
- gnomAD 21-34370621-A-AT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.562
- CADD 29.30
- Population evidence available
- Structural context available
- Literature evidence available