K85N (p.Lys85Asn) variant of POT1 (Q9NUX5)
K85N (p.Lys85Asn) in POT1 (Q9NUX5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Tumor predisposition syndrome 3; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
K85N (p.Lys85Asn) variant details
- p.Lys85Asn
- rs747851551
- NCI-TCGA Cosmic COSV6292
- ClinGen CA369061246
- ClinVar RCV002268721
- Likely pathogenic
- Tumor predisposition syndrome 3; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.633
- REVEL 0.46
- CADD 36.00
- PolyPhen-2 0.81
- SIFT 0.00
- ClinVar: Likely pathogenic (Tumor predisposition syndrome 3; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: POT1 Tumor Predisposition. (PMID 33119245)