T72I (p.Thr72Ile) variant of ERCC3 (P19447)
T72I (p.Thr72Ile) in ERCC3 (P19447) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
T72I (p.Thr72Ile) variant details
- p.Thr72Ile
- cosmic curated COSV11343
- ExAC rs763746043
- TOPMed rs763746043
- gnomAD rs763746043
- Missense
- Variant Prioritization Score for Impact Estimate 0.185
- REVEL 0.09
- ESM-1b 0.73
- AlphaMissense 0.06
- CADD 16.10
- PolyPhen-2 0.00
- SIFT 0.13
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available