A725P (p.Ala725Pro) variant of ERCC2 (P18074)
A725P (p.Ala725Pro) in ERCC2 (P18074) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Inborn genetic diseases; Trichothiodystrophy 1, photosensitive; Cerebrooculofaci. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
A725P (p.Ala725Pro) variant details
- p.Ala725Pro
- rs121913018
- ClinGen CA126881
- ClinVar RCV000018270
- ClinVar RCV001851906
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; Trichothiodystrophy 1, photosensitive; Cerebrooculofaci
- Missense
- Variant Prioritization Score for Impact Estimate 0.881
- REVEL 0.93
- AlphaMissense 1.00
- MetaLR 0.82
- MetaSVM 0.88
- CADD 28.00
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; Trichothiodystrophy 1, photosensitive;)
- EBI: Pathogenic (in TTD1)
- UniProt: Pathogenic (in TTD1)
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- Cited in: DNA repair characteristics and mutations in the ERCC2 DNA repair and transcription gene in a trichothiodystrophy… (PMID 9195225)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)