Q52K (p.Gln52Lys) variant of POT1 (Q9NUX5)
Q52K (p.Gln52Lys) in POT1 (Q9NUX5) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
Q52K (p.Gln52Lys) variant details
- p.Gln52Lys
- TOPMed rs1416551470
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.275
- REVEL 0.14
- CADD 20.80
- PolyPhen-2 0.23
- SIFT 0.07
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)
- Structural context available