D42N (p.Asp42Asn) variant of POT1 (Q9NUX5)
D42N (p.Asp42Asn) in POT1 (Q9NUX5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Tumor predisposition syndrome 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
D42N (p.Asp42Asn) variant details
- p.Asp42Asn
- rs1358511734
- ClinGen CA369065929
- ClinVar RCV001912012
- gnomAD rs1358511734
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Tumor predisposition syndrome 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.743
- REVEL 0.67
- CADD 35.00
- PolyPhen-2 0.85
- SIFT 0.03
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Tumor predisposition sy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: POT1 Tumor Predisposition. (PMID 33119245)