R31Q (p.Arg31Gln) variant of TERF2 (Q15554)
R31Q (p.Arg31Gln) in TERF2 (Q15554) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R31Q (p.Arg31Gln) variant details
- p.Arg31Gln
- ExAC rs779995921
- TOPMed rs779995921
- gnomAD rs779995921
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- CADD 23.40
- PolyPhen-2 0.95
- SIFT 0.10
- Most common in the South Asian population (allele frequency 0.0002)
- Structural context available
- TERF2 SANT/Myb domain domainome 1.0: score -0.444