R59K (p.Arg59Lys) variant of TERF2 (Q15554)
R59K (p.Arg59Lys) in TERF2 (Q15554) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
R59K (p.Arg59Lys) variant details
- p.Arg59Lys
- TOPMed rs2014180886
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.10
- MetaLR 0.10
- MetaSVM -0.98
- CADD 22.10
- PolyPhen-2 0.79
- SIFT 0.04
- Most common in the East Asian population (allele frequency 3.9e-05)
- Structural context available