I78T (p.Ile78Thr) variant of POT1 (Q9NUX5)
I78T (p.Ile78Thr) in POT1 (Q9NUX5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Tumor predisposition syndrome 3; not provided; Hereditary cancer-predisposing sy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
I78T (p.Ile78Thr) variant details
- p.Ile78Thr
- rs947005337
- ClinGen CA166079829
- NCI-TCGA Cosmic COSV6293
- ClinVar RCV000547634
- Pathogenic/Likely pathogenic
- Tumor predisposition syndrome 3; not provided; Hereditary cancer-predisposing sy
- Missense
- Variant Prioritization Score for Impact Estimate 0.667
- REVEL 0.69
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Tumor predisposition syndrome 3; not provided; Hereditary cancer)
- EBI: Pathogenic (in TPDS3)
- UniProt: Pathogenic (in TPDS3)
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Association of the POT1 Germline Missense Variant p.I78T With Familial Melanoma. (PMID 30586141)
- Cited in: Familial Clonal Hematopoiesis in a Long Telomere Syndrome. (PMID 37140166)