P75Q (p.Pro75Gln) variant of TERF2 (Q15554)
P75Q (p.Pro75Gln) in TERF2 (Q15554) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. 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.
P75Q (p.Pro75Gln) variant details
- p.Pro75Gln
- TOPMed rs1208445050
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.187
- REVEL 0.05
- MetaLR 0.05
- MetaSVM -1.01
- CADD 19.40
- PolyPhen-2 0.01
- SIFT 0.13
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available