R6Q (p.Arg6Gln) variant of ERCC3 (P19447)
R6Q (p.Arg6Gln) 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.
R6Q (p.Arg6Gln) variant details
- p.Arg6Gln
- TOPMed rs893323064
- gnomAD rs893323064
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- REVEL 0.05
- ESM-1b 0.42
- AlphaMissense 0.19
- CADD 23.00
- PolyPhen-2 0.01
- SIFT 0.12
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available