Q623H (p.Gln623His) variant of POT1 (Q9NUX5)
Q623H (p.Gln623His) in POT1 (Q9NUX5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Tumor predisposition syndrome 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes published literature and structural context.
Q623H (p.Gln623His) variant details
- p.Gln623His
- rs587777478
- ClinGen CA163233
- cosmic curated COSV10526
- ClinVar RCV000128426
- Pathogenic
- Tumor predisposition syndrome 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- AlphaMissense 0.55
- MetaLR 0.19
- MetaSVM -0.76
- PolyPhen-2 0.97
- SIFT 0.00
- EVE 0.32
- ClinVar: Pathogenic (Tumor predisposition syndrome 3)
- EBI: Pathogenic (in TPDS3)
- UniProt: Pathogenic (in TPDS3)
- Structural context available
- Cited in: Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma. (PMID 24686846)
- Cited in: POT1 Tumor Predisposition. (PMID 33119245)