G112V (p.Gly112Val) variant of TERF2 (Q15554)
G112V (p.Gly112Val) in TERF2 (Q15554) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
G112V (p.Gly112Val) variant details
- p.Gly112Val
- rs779198488
- ExAC rs779198488
- gnomAD rs779198488
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- REVEL 0.10
- AlphaMissense 0.07
- MetaLR 0.04
- MetaSVM -1.01
- CADD 23.60
- PolyPhen-2 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available