K48R (p.Lys48Arg) variant of CLDN14 (Claudin-14)
K48R (p.Lys48Arg) in CLDN14 (Claudin-14) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
K48R (p.Lys48Arg) variant details
- p.Lys48Arg
- gnomAD rs947811327
- Missense
- Variant Prioritization Score for Impact Estimate 0.624
- REVEL 0.63
- CADD 23.80
- PolyPhen-2 0.78
- SIFT 0.06
- Population evidence available
- Structural context available