D24N (p.Asp24Asn) variant of ERCC3 (P19447)
D24N (p.Asp24Asn) in ERCC3 (P19447) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
D24N (p.Asp24Asn) variant details
- p.Asp24Asn
- ExAC rs752952963
- TOPMed rs752952963
- gnomAD rs752952963
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.13
- ESM-1b 0.48
- AlphaMissense 0.08
- CADD 20.60
- PolyPhen-2 0.01
- SIFT 0.48
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available