A8V (p.Ala8Val) variant of TERF2 (Q15554)
A8V (p.Ala8Val) in TERF2 (Q15554) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A8V (p.Ala8Val) variant details
- p.Ala8Val
- TOPMed rs958788634
- gnomAD rs958788634
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- CADD 13.00
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the South Asian population (allele frequency 1.8e-05)
- Structural context available
- TERF2 SANT/Myb domain domainome 1.0: score 0.233