S45N (p.Ser45Asn) variant of TRDN (Triadin)
S45N (p.Ser45Asn) in TRDN (Triadin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
S45N (p.Ser45Asn) variant details
- p.Ser45Asn
- rs748395950
- NCI-TCGA Cosmic COSV1005
- NCI-TCGA Cosmic COSV6212
- cosmic curated COSV62121
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.497
- REVEL 0.29
- CADD 24.80
- PolyPhen-2 1.00
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00012)
- Structural context available