I61F (p.Ile61Phe) variant of CLDN14 (Claudin-14)
I61F (p.Ile61Phe) in CLDN14 (Claudin-14) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
I61F (p.Ile61Phe) variant details
- p.Ile61Phe
- rs757334760
- ClinGen CA10019327
- ClinVar RCV002642218
- ExAC rs757334760
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- REVEL 0.55
- CADD 24.00
- PolyPhen-2 0.65
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available