A81G (p.Ala81Gly) variant of TERF2 (Q15554)
A81G (p.Ala81Gly) in TERF2 (Q15554) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
A81G (p.Ala81Gly) variant details
- p.Ala81Gly
- 1000Genomes rs779098904
- ExAC rs779098904
- TOPMed rs779098904
- gnomAD rs779098904
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- REVEL 0.08
- MetaLR 0.05
- MetaSVM -1.04
- CADD 22.90
- PolyPhen-2 0.00
- SIFT 0.42
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available