S73A (p.Ser73Ala) variant of ERCC3 (P19447)
S73A (p.Ser73Ala) in ERCC3 (P19447) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
S73A (p.Ser73Ala) variant details
- p.Ser73Ala
- rs2104782786
- ClinGen CA348392014
- ClinVar RCV002041244
- Ensembl rs2104782786
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- REVEL 0.22
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 23.50
- PolyPhen-2 0.01
- SIFT 0.12
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available