D10N (p.Asp10Asn) variant of ERCC3 (P19447)
D10N (p.Asp10Asn) in ERCC3 (P19447) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
D10N (p.Asp10Asn) variant details
- p.Asp10Asn
- gnomAD rs1438418977
- Missense
- Variant Prioritization Score for Impact Estimate 0.326
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.14
- CADD 34.00
- PolyPhen-2 0.00
- SIFT 0.18
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available