A41V (p.Ala41Val) variant of ERCC3 (P19447)
A41V (p.Ala41Val) in ERCC3 (P19447) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Xeroderma pigmentosum. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
A41V (p.Ala41Val) variant details
- p.Ala41Val
- rs1239018301
- ClinGen CA348392220
- ClinVar RCV002257075
- TOPMed rs1239018301
- Uncertain significance
- Xeroderma pigmentosum
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.24
- ESM-1b 0.00
- AlphaMissense 0.23
- CADD 23.50
- ClinVar: Uncertain significance (Xeroderma pigmentosum)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Cited in: Xeroderma Pigmentosum. (PMID 20301571)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)