S23P (p.Ser23Pro) variant of TERF2 (Q15554)
S23P (p.Ser23Pro) in TERF2 (Q15554) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, experimental measurements, and structural context.
S23P (p.Ser23Pro) variant details
- p.Ser23Pro
- ExAC rs768540672
- TOPMed rs768540672
- gnomAD rs768540672
- Missense
- Variant Prioritization Score for Impact Estimate 0.533
- CADD 25.60
- PolyPhen-2 0.96
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.7e-05)
- Structural context available
- TERF2 SANT/Myb domain domainome 1.0: score -0.539