V36M (p.Val36Met) variant of CLDN14 (Claudin-14)
V36M (p.Val36Met) 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 0.69 / 1. The record also includes population frequency data and structural context.
V36M (p.Val36Met) variant details
- p.Val36Met
- rs142205038
- ClinGen CA10019340
- cosmic curated COSV59775
- ClinVar RCV002026765
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.688
- REVEL 0.64
- CADD 23.70
- PolyPhen-2 0.98
- SIFT 0.03
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available