T138S (p.Thr138Ser) variant of TERF2 (Q15554)
T138S (p.Thr138Ser) in TERF2 (Q15554) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
T138S (p.Thr138Ser) variant details
- p.Thr138Ser
- gnomAD rs1412885922
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.04
- AlphaMissense 0.82
- MetaLR 0.23
- MetaSVM -0.81
- CADD 18.70
- PolyPhen-2 0.37
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available