N48T (p.Asn48Thr) variant of CLDN10 (Claudin-10)
N48T (p.Asn48Thr) in CLDN10 (Claudin-10) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in HELIX. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
N48T (p.Asn48Thr) variant details
- p.Asn48Thr
- gnomAD rs1177632600
- Uncertain significance
- in HELIX
- Missense
- Variant Prioritization Score for Impact Estimate 0.663
- REVEL 0.66
- CADD 29.70
- PolyPhen-2 0.97
- SIFT 0.01
- EBI: Variant of uncertain significance (in HELIX)
- UniProt: Uncertain significance (in HELIX)
- Population evidence available
- Structural context available