M125V (p.Met125Val) variant of TERF2 (Q15554)
M125V (p.Met125Val) in TERF2 (Q15554) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
M125V (p.Met125Val) variant details
- p.Met125Val
- Ensembl rs2014170648
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- REVEL 0.38
- AlphaMissense 0.06
- MetaLR 0.04
- MetaSVM -1.00
- CADD 24.00
- PolyPhen-2 0.00
- Most common in the Non-Finnish European population (allele frequency 1.6e-06)
- Structural context available