N24K (p.Asn24Lys) variant of POT1 (Q9NUX5)
N24K (p.Asn24Lys) in POT1 (Q9NUX5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Tumor predisposition syndrome 3. The record also includes published literature and structural context.
N24K (p.Asn24Lys) variant details
- p.Asn24Lys
- rs774667836
- ClinGen CA369066129
- ClinVar RCV001359118
- ExAC rs774667836
- Uncertain significance
- Tumor predisposition syndrome 3
- Missense
- ClinVar: Uncertain significance (Tumor predisposition syndrome 3)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- Cited in: POT1 Tumor Predisposition. (PMID 33119245)