E35D (p.Glu35Asp) variant of TERF2 (Q15554)
E35D (p.Glu35Asp) in TERF2 (Q15554) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, experimental measurements, and structural context.
E35D (p.Glu35Asp) variant details
- p.Glu35Asp
- Ensembl rs1567459023
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- CADD 24.20
- PolyPhen-2 0.95
- SIFT 0.16
- Most common in the Non-Finnish European population (allele frequency 1e-06)
- Structural context available
- TERF2 SANT/Myb domain domainome 1.0: score -0.375