G54R (p.Gly54Arg) variant of TERF2 (Q15554)
G54R (p.Gly54Arg) in TERF2 (Q15554) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G54R (p.Gly54Arg) variant details
- p.Gly54Arg
- TOPMed rs1409252965
- gnomAD rs1409252965
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- REVEL 0.15
- MetaLR 0.11
- MetaSVM -0.85
- CADD 23.70
- PolyPhen-2 0.97
- SIFT 0.22
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- TERF2 SANT/Myb domain domainome 1.0: score -0.399