I84V (p.Ile84Val) variant of ERCC2 (P18074)
I84V (p.Ile84Val) in ERCC2 (P18074) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
I84V (p.Ile84Val) variant details
- p.Ile84Val
- rs1254013195
- ClinGen CA406378878
- ClinVar RCV002024724
- gnomAD rs1254013195
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- REVEL 0.18
- CADD 20.30
- PolyPhen-2 0.01
- SIFT 0.25
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available