A37T (p.Ala37Thr) variant of ERCC3 (P19447)
A37T (p.Ala37Thr) 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 0.33 / 1. The record also includes population frequency data and structural context.
A37T (p.Ala37Thr) variant details
- p.Ala37Thr
- rs773797861
- ClinGen CA1858623
- ClinVar RCV002049946
- ExAC rs773797861
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- REVEL 0.18
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 22.00
- PolyPhen-2 0.02
- SIFT 0.56
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 0.00012)
- Structural context available