R17W (p.Arg17Trp) variant of ERCC3 (P19447)
R17W (p.Arg17Trp) in ERCC3 (P19447) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
R17W (p.Arg17Trp) variant details
- p.Arg17Trp
- ExAC rs779316093
- TOPMed rs779316093
- gnomAD rs779316093
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.21
- ESM-1b 0.64
- AlphaMissense 0.22
- CADD 32.00
- PolyPhen-2 0.98
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available