R6G (p.Arg6Gly) variant of ERCC3 (P19447)
R6G (p.Arg6Gly) in ERCC3 (P19447) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
R6G (p.Arg6Gly) variant details
- p.Arg6Gly
- 1000Genomes rs542029381
- ExAC rs542029381
- gnomAD rs542029381
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- REVEL 0.17
- ESM-1b 0.00
- AlphaMissense 0.22
- CADD 23.30
- PolyPhen-2 0.01
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available