G58D (p.Gly58Asp) variant of TERF2 (Q15554)
G58D (p.Gly58Asp) in TERF2 (Q15554) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
G58D (p.Gly58Asp) variant details
- p.Gly58Asp
- TOPMed rs1055614214
- Missense
- Variant Prioritization Score for Impact Estimate 0.228
- REVEL 0.01
- MetaLR 0.05
- MetaSVM -1.02
- CADD 15.90
- PolyPhen-2 0.00
- SIFT 0.07
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available