D24G (p.Asp24Gly) variant of ERCC3 (P19447)
D24G (p.Asp24Gly) in ERCC3 (P19447) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
D24G (p.Asp24Gly) variant details
- p.Asp24Gly
- TOPMed rs1313189867
- gnomAD rs1313189867
- Missense
- Variant Prioritization Score for Impact Estimate 0.212
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 22.00
- PolyPhen-2 0.02
- SIFT 0.30
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available