R63L (p.Arg63Leu) variant of TERF2 (Q15554)
R63L (p.Arg63Leu) in TERF2 (Q15554) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
R63L (p.Arg63Leu) variant details
- p.Arg63Leu
- TOPMed rs1410828727
- gnomAD rs1410828727
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.14
- MetaLR 0.07
- MetaSVM -0.97
- CADD 25.50
- PolyPhen-2 0.60
- SIFT 0.04
- Most common in the REMAINING population (allele frequency 4.4e-05)
- Structural context available