G99D (p.Gly99Asp) variant of ERCC2 (P18074)
G99D (p.Gly99Asp) 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 0.60 / 1. The record also includes population frequency data and structural context.
G99D (p.Gly99Asp) variant details
- p.Gly99Asp
- cosmic curated COSV10637
- gnomAD rs1402868401
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.603
- REVEL 0.58
- CADD 23.00
- PolyPhen-2 0.11
- SIFT 0.05
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available