R31* (p.Arg31Ter) variant of TERF2 (Q15554)
R31* (p.Arg31Ter) in TERF2 (Q15554) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R31* (p.Arg31Ter) variant details
- p.Arg31Ter
- rs201689490
- gnomAD 16-69357036-G-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.0907
- CADD 1.90
- Most common in the HGDP:BOUGAINVILLE population (allele frequency 0.091)
- Structural context available
- TERF2 SANT/Myb domain domainome 1.0: score -0.444
- Literature evidence available