H83R (p.His83Arg) variant of ERCC3 (P19447)
H83R (p.His83Arg) in ERCC3 (P19447) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
H83R (p.His83Arg) variant details
- p.His83Arg
- cosmic curated COSV10453
- 1000Genomes rs532415974
- TOPMed rs532415974
- Missense
- Variant Prioritization Score for Impact Estimate 0.591
- REVEL 0.54
- ESM-1b 1.00
- AlphaMissense 0.33
- CADD 20.90
- PolyPhen-2 0.01
- SIFT 0.76
- Most common in the 1KG:PEL population (allele frequency 0.0059)
- Structural context available