G4R (p.Gly4Arg) variant of TERF2 (Q15554)
G4R (p.Gly4Arg) in TERF2 (Q15554) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G4R (p.Gly4Arg) variant details
- p.Gly4Arg
- cosmic curated COSV10454
- TOPMed rs1446731694
- gnomAD rs1446731694
- Missense
- Variant Prioritization Score for Impact Estimate 0.716
- CADD 23.20
- PolyPhen-2 0.00
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- TERF2 SANT/Myb domain domainome 1.0: score -0.325