T114I (p.Thr114Ile) variant of XRCC3 (DNA repair protein XRCC3)
T114I (p.Thr114Ile) in XRCC3 (DNA repair protein XRCC3) 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 0.80 / 1. The record also includes population frequency data and structural context.
T114I (p.Thr114Ile) variant details
- p.Thr114Ile
- gnomAD rs1367065901
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.802
- REVEL 0.91
- CADD 24.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 6.8e-05)
- Structural context available