K39E (p.Lys39Glu) variant of POT1 (Q9NUX5)
K39E (p.Lys39Glu) in POT1 (Q9NUX5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Tumor predisposition syndrome 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
K39E (p.Lys39Glu) variant details
- p.Lys39Glu
- rs2485562462
- ClinGen CA369065969
- NCI-TCGA Cosmic COSV6292
- ClinVar RCV002469708
- Uncertain significance
- not provided; Tumor predisposition syndrome 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.16
- CADD 24.20
- PolyPhen-2 0.20
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Tumor predisposition syndrome 3)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 3.8e-05)
- Structural context available
- Cited in: POT1 Tumor Predisposition. (PMID 33119245)