G78R (p.Gly78Arg) variant of TERF2 (Q15554)
G78R (p.Gly78Arg) in TERF2 (Q15554) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
G78R (p.Gly78Arg) variant details
- p.Gly78Arg
- TOPMed rs2014177647
- gnomAD rs2014177647
- Missense
- Variant Prioritization Score for Impact Estimate 0.212
- REVEL 0.06
- MetaLR 0.07
- MetaSVM -1.01
- CADD 22.80
- PolyPhen-2 0.04
- SIFT 0.11
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available