C64G (p.Cys64Gly) variant of CLDN14 (Claudin-14)
C64G (p.Cys64Gly) in CLDN14 (Claudin-14) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
C64G (p.Cys64Gly) variant details
- p.Cys64Gly
- gnomAD 21-36461506-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.832
- REVEL 0.96
- CADD 27.90
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available