A56E (p.Ala56Glu) variant of TERF2 (Q15554)
A56E (p.Ala56Glu) in TERF2 (Q15554) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
A56E (p.Ala56Glu) variant details
- p.Ala56Glu
- TOPMed rs1163524680
- gnomAD rs1163524680
- Missense
- Variant Prioritization Score for Impact Estimate 0.223
- REVEL 0.05
- MetaLR 0.03
- MetaSVM -1.09
- CADD 19.30
- PolyPhen-2 0.49
- SIFT 0.05
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available