R38G (p.Arg38Gly) variant of TERF2 (Q15554)
R38G (p.Arg38Gly) in TERF2 (Q15554) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R38G (p.Arg38Gly) variant details
- p.Arg38Gly
- gnomAD rs1228833261
- Missense
- Variant Prioritization Score for Impact Estimate 0.751
- CADD 26.90
- PolyPhen-2 0.95
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.8e-05)
- Structural context available
- TERF2 SANT/Myb domain domainome 1.0: score -0.717