R28W (p.Arg28Trp) variant of TERF2 (Q15554)
R28W (p.Arg28Trp) in TERF2 (Q15554) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R28W (p.Arg28Trp) variant details
- p.Arg28Trp
- gnomAD rs1192506837
- Missense
- Variant Prioritization Score for Impact Estimate 0.51
- CADD 27.90
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the South Asian population (allele frequency 5.4e-05)
- Structural context available
- TERF2 SANT/Myb domain domainome 1.0: score -0.458