A8S (p.Ala8Ser) variant of TERF2 (Q15554)
A8S (p.Ala8Ser) in TERF2 (Q15554) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A8S (p.Ala8Ser) variant details
- p.Ala8Ser
- TOPMed rs2014191992
- gnomAD rs2014191992
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- CADD 15.20
- PolyPhen-2 0.00
- SIFT 0.11
- Most common in the Ashkenazi Jewish population (allele frequency 5.4e-05)
- Structural context available
- TERF2 SANT/Myb domain domainome 1.0: score 0.233