P75L (p.Pro75Leu) variant of TERF2 (Q15554)
P75L (p.Pro75Leu) in TERF2 (Q15554) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. 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.
P75L (p.Pro75Leu) variant details
- p.Pro75Leu
- TOPMed rs1208445050
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.186
- REVEL 0.05
- MetaLR 0.05
- MetaSVM -1.01
- CADD 19.30
- PolyPhen-2 0.00
- SIFT 0.18
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available