H83P (p.His83Pro) variant of ERCC3 (P19447)
H83P (p.His83Pro) in ERCC3 (P19447) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
H83P (p.His83Pro) variant details
- p.His83Pro
- 1000Genomes rs532415974
- TOPMed rs532415974
- Missense
- Variant Prioritization Score for Impact Estimate 0.695
- REVEL 0.66
- ESM-1b 1.00
- AlphaMissense 0.99
- CADD 27.10
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available