R9G (p.Arg9Gly) variant of ERCC3 (P19447)
R9G (p.Arg9Gly) in ERCC3 (P19447) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
R9G (p.Arg9Gly) variant details
- p.Arg9Gly
- TOPMed rs1319949323
- gnomAD rs1319949323
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- REVEL 0.17
- ESM-1b 0.00
- AlphaMissense 0.22
- CADD 25.00
- PolyPhen-2 0.93
- SIFT 0.20
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available