A57S (p.Ala57Ser) variant of TERF2 (Q15554)
A57S (p.Ala57Ser) in TERF2 (Q15554) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
A57S (p.Ala57Ser) variant details
- p.Ala57Ser
- gnomAD rs1433393602
- Missense
- Variant Prioritization Score for Impact Estimate 0.207
- REVEL 0.09
- MetaLR 0.06
- MetaSVM -1.03
- CADD 10.60
- PolyPhen-2 0.02
- SIFT 0.27
- Most common in the East Asian population (allele frequency 3.9e-05)
- Structural context available