G6R (p.Gly6Arg) variant of TERF2 (Q15554)
G6R (p.Gly6Arg) in TERF2 (Q15554) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G6R (p.Gly6Arg) variant details
- p.Gly6Arg
- TOPMed rs1052487232
- gnomAD rs1052487232
- Missense
- Variant Prioritization Score for Impact Estimate 0.714
- CADD 23.10
- PolyPhen-2 0.00
- SIFT 0.13
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available
- TERF2 SANT/Myb domain domainome 1.0: score 0.192