V145I (p.Val145Ile) variant of TERF2 (Q15554)
V145I (p.Val145Ile) 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 0.27 / 1. The record also includes population frequency data and structural context.
V145I (p.Val145Ile) variant details
- p.Val145Ile
- TOPMed rs1236887794
- gnomAD rs1236887794
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.06
- MetaLR 0.05
- MetaSVM -1.02
- CADD 18.10
- PolyPhen-2 0.03
- SIFT 1.00
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available