M125L (p.Met125Leu) variant of TERF2 (Q15554)
M125L (p.Met125Leu) in TERF2 (Q15554) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
M125L (p.Met125Leu) variant details
- p.Met125Leu
- Ensembl rs2014170648
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- REVEL 0.24
- AlphaMissense 0.09
- MetaLR 0.04
- MetaSVM -1.06
- CADD 23.00
- PolyPhen-2 0.89
- Population evidence available
- Structural context available