E82D (p.Glu82Asp) variant of TERF2 (Q15554)
E82D (p.Glu82Asp) in TERF2 (Q15554) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
E82D (p.Glu82Asp) variant details
- p.Glu82Asp
- TOPMed rs1352640391
- gnomAD rs1352640391
- Missense
- Variant Prioritization Score for Impact Estimate 0.153
- REVEL 0.05
- MetaLR 0.04
- MetaSVM -1.05
- CADD 18.20
- PolyPhen-2 0.00
- SIFT 0.25
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available