R31W (p.Arg31Trp) variant of TERF2 (Q15554)
R31W (p.Arg31Trp) in TERF2 (Q15554) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R31W (p.Arg31Trp) variant details
- p.Arg31Trp
- TOPMed rs1249784176
- gnomAD rs1249784176
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- CADD 23.90
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- TERF2 SANT/Myb domain domainome 1.0: score -0.444