A5S (p.Ala5Ser) variant of TERF2 (Q15554)
A5S (p.Ala5Ser) in TERF2 (Q15554) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A5S (p.Ala5Ser) variant details
- p.Ala5Ser
- TOPMed rs892268339
- gnomAD rs892268339
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- CADD 15.40
- PolyPhen-2 0.00
- SIFT 0.17
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- TERF2 SANT/Myb domain domainome 1.0: score 0.192