P80Q (p.Pro80Gln) variant of TERF2 (Q15554)
P80Q (p.Pro80Gln) 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.
P80Q (p.Pro80Gln) variant details
- p.Pro80Gln
- gnomAD rs1352033745
- Missense
- Variant Prioritization Score for Impact Estimate 0.194
- REVEL 0.03
- MetaLR 0.06
- MetaSVM -1.09
- CADD 21.40
- PolyPhen-2 0.05
- SIFT 0.59
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.2e-05)
- Structural context available