R96L (p.Arg96Leu) variant of TERF2 (Q15554)
R96L (p.Arg96Leu) in TERF2 (Q15554) is a missense change. Clinical records from ClinVar 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 0.59 / 1. The record also includes population frequency data and structural context.
R96L (p.Arg96Leu) variant details
- p.Arg96Leu
- ExAC rs762744055
- TOPMed rs762744055
- gnomAD rs762744055
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.594
- REVEL 0.55
- MetaLR 0.25
- MetaSVM -0.61
- CADD 27.50
- PolyPhen-2 0.93
- SIFT 0.06
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available