S12T (p.Ser12Thr) variant of TERF2 (Q15554)
S12T (p.Ser12Thr) 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.
S12T (p.Ser12Thr) variant details
- p.Ser12Thr
- TOPMed rs1291049941
- gnomAD rs1291049941
- Missense
- Variant Prioritization Score for Impact Estimate 0.581
- CADD 23.70
- PolyPhen-2 0.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- TERF2 SANT/Myb domain domainome 1.0: score -0.855