R6L (p.Arg6Leu) variant of ERCC3 (P19447)
R6L (p.Arg6Leu) in ERCC3 (P19447) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
R6L (p.Arg6Leu) variant details
- p.Arg6Leu
- TOPMed rs893323064
- gnomAD rs893323064
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- REVEL 0.08
- ESM-1b 0.80
- AlphaMissense 0.36
- CADD 24.80
- PolyPhen-2 0.01
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available