I66S (p.Ile66Ser) variant of CLDN14 (Claudin-14)
I66S (p.Ile66Ser) in CLDN14 (Claudin-14) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
I66S (p.Ile66Ser) variant details
- p.Ile66Ser
- rs760769965
- gnomAD 21-36461500-TC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.269
- CADD 26.60
- Population evidence available
- Structural context available
- Literature evidence available