A85S (p.Ala85Ser) variant of TERF2 (Q15554)
A85S (p.Ala85Ser) in TERF2 (Q15554) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
A85S (p.Ala85Ser) variant details
- p.Ala85Ser
- TOPMed rs1304054862
- gnomAD rs1304054862
- Missense
- Variant Prioritization Score for Impact Estimate 0.187
- REVEL 0.02
- MetaLR 0.04
- MetaSVM -1.05
- CADD 22.30
- PolyPhen-2 0.15
- SIFT 0.14
- Most common in the Latino/Admixed American population (allele frequency 5e-05)
- Structural context available