A81V (p.Ala81Val) variant of TERF2 (Q15554)
A81V (p.Ala81Val) in TERF2 (Q15554) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
A81V (p.Ala81Val) variant details
- p.Ala81Val
- 1000Genomes rs779098904
- ExAC rs779098904
- TOPMed rs779098904
- gnomAD rs779098904
- Missense
- Variant Prioritization Score for Impact Estimate 0.232
- REVEL 0.06
- MetaLR 0.04
- MetaSVM -1.06
- CADD 22.50
- PolyPhen-2 0.05
- SIFT 0.11
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available