Q35H (p.Gln35His) variant of ERCC3 (P19447)
Q35H (p.Gln35His) in ERCC3 (P19447) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
Q35H (p.Gln35His) variant details
- p.Gln35His
- TOPMed rs1373227745
- gnomAD rs1373227745
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.205
- REVEL 0.14
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 16.30
- PolyPhen-2 0.00
- SIFT 0.14
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available