N48S (p.Asn48Ser) variant of CLDN10 (Claudin-10)
N48S (p.Asn48Ser) in CLDN10 (Claudin-10) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
N48S (p.Asn48Ser) variant details
- p.Asn48Ser
- gnomAD rs1177632600
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.585
- REVEL 0.54
- CADD 26.80
- PolyPhen-2 0.72
- SIFT 0.04
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance (in HELIX)
- UniProt: Uncertain significance (in HELIX)
- Population evidence available
- Structural context available