V50I (p.Val50Ile) variant of ERCC2 (P18074)
V50I (p.Val50Ile) in ERCC2 (P18074) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
V50I (p.Val50Ile) variant details
- p.Val50Ile
- gnomAD rs1322143480
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- REVEL 0.24
- CADD 19.70
- PolyPhen-2 0.00
- SIFT 0.42
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available