I80T (p.Ile80Thr) variant of ERCC2 (P18074)
I80T (p.Ile80Thr) in ERCC2 (P18074) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
I80T (p.Ile80Thr) variant details
- p.Ile80Thr
- NCI-TCGA Cosmic COSV5553
- cosmic curated COSV55538
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.651
- REVEL 0.69
- CADD 23.80
- PolyPhen-2 0.20
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available