R108Q (p.Arg108Gln) variant of TERF2 (Q15554)
R108Q (p.Arg108Gln) in TERF2 (Q15554) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
R108Q (p.Arg108Gln) variant details
- p.Arg108Gln
- ExAC rs772214740
- TOPMed rs772214740
- gnomAD rs772214740
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- REVEL 0.13
- MetaLR 0.12
- MetaSVM -0.81
- CADD 25.00
- PolyPhen-2 0.77
- SIFT 0.58
- Most common in the HGDP:BEDOUIN population (allele frequency 0.036)
- Structural context available