E87D (p.Glu87Asp) variant of TERF2 (Q15554)
E87D (p.Glu87Asp) in TERF2 (Q15554) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
E87D (p.Glu87Asp) variant details
- p.Glu87Asp
- gnomAD rs2014175601
- Missense
- Variant Prioritization Score for Impact Estimate 0.129
- REVEL 0.06
- MetaLR 0.05
- MetaSVM -1.06
- CADD 17.20
- PolyPhen-2 0.00
- SIFT 0.11
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available