R39Q (p.Arg39Gln) variant of TERF2 (Q15554)
R39Q (p.Arg39Gln) in TERF2 (Q15554) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R39Q (p.Arg39Gln) variant details
- p.Arg39Gln
- 1000Genomes rs549767806
- ExAC rs549767806
- TOPMed rs549767806
- gnomAD rs549767806
- Missense
- Variant Prioritization Score for Impact Estimate 0.578
- CADD 25.10
- PolyPhen-2 0.95
- SIFT 0.12
- Most common in the 1KG:STU population (allele frequency 0.01)
- Structural context available
- TERF2 SANT/Myb domain domainome 1.0: score -0.0152