R6P (p.Arg6Pro) variant of ERCC3 (P19447)
R6P (p.Arg6Pro) 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.
R6P (p.Arg6Pro) variant details
- p.Arg6Pro
- TOPMed rs893323064
- gnomAD rs893323064
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.11
- ESM-1b 0.62
- AlphaMissense 0.49
- CADD 24.10
- PolyPhen-2 0.04
- SIFT 0.01
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available