T42R (p.Thr42Arg) variant of TERF2 (Q15554)
T42R (p.Thr42Arg) in TERF2 (Q15554) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, experimental measurements, and structural context.
T42R (p.Thr42Arg) variant details
- p.Thr42Arg
- TOPMed rs1407822167
- gnomAD rs1407822167
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- CADD 21.40
- PolyPhen-2 0.07
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- TERF2 SANT/Myb domain domainome 1.0: score -0.448