A7V (p.Ala7Val) variant of ERCC3 (P19447)
A7V (p.Ala7Val) 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 0.10 / 1. The record also includes population frequency data and structural context.
A7V (p.Ala7Val) variant details
- p.Ala7Val
- rs1461005787
- ClinGen CA348392462
- ClinVar RCV002588690
- TOPMed rs1461005787
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.102
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 9.69
- PolyPhen-2 0.00
- SIFT 0.40
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available