G112D (p.Gly112Asp) variant of TERF2 (Q15554)
G112D (p.Gly112Asp) in TERF2 (Q15554) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
G112D (p.Gly112Asp) variant details
- p.Gly112Asp
- ExAC rs779198488
- gnomAD rs779198488
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- REVEL 0.08
- AlphaMissense 0.15
- MetaLR 0.05
- MetaSVM -1.01
- CADD 21.90
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available