A109V (p.Ala109Val) variant of TERF2 (Q15554)
A109V (p.Ala109Val) in TERF2 (Q15554) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
A109V (p.Ala109Val) variant details
- p.Ala109Val
- ExAC rs748277244
- gnomAD rs748277244
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- REVEL 0.15
- MetaLR 0.28
- MetaSVM -0.51
- CADD 31.00
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available