S23N (p.Ser23Asn) variant of DSG1 (Desmoglein-1)
S23N (p.Ser23Asn) in DSG1 (Desmoglein-1) is a missense change. Clinical records from ClinVar 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 0.35 / 1. The record also includes population frequency data and structural context.
S23N (p.Ser23Asn) variant details
- p.Ser23Asn
- NCI-TCGA Cosmic COSV9993
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- REVEL 0.17
- MetaLR 0.21
- MetaSVM -0.81
- CADD 23.20
- PolyPhen-2 0.04
- SIFT 0.08
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available