L12Q (p.Leu12Gln) variant of CLDN14 (Claudin-14)
L12Q (p.Leu12Gln) in CLDN14 (Claudin-14) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
L12Q (p.Leu12Gln) variant details
- p.Leu12Gln
- gnomAD 21-36461661-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.499
- REVEL 0.59
- CADD 23.90
- PolyPhen-2 0.70
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available