T42M (p.Thr42Met) variant of TERF2 (Q15554)
T42M (p.Thr42Met) in TERF2 (Q15554) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, experimental measurements, and structural context.
T42M (p.Thr42Met) variant details
- p.Thr42Met
- TOPMed rs1407822167
- gnomAD rs1407822167
- Missense
- Variant Prioritization Score for Impact Estimate 0.444
- CADD 23.40
- PolyPhen-2 0.27
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.9e-05)
- Structural context available
- TERF2 SANT/Myb domain domainome 1.0: score -0.448