T709P (p.Thr709Pro) variant of ERCC2 (P18074)
T709P (p.Thr709Pro) in ERCC2 (P18074) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Cerebrooculofacioskeletal syndrome 2; Trichothiodystrophy 1, photosensitive; Xer. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
T709P (p.Thr709Pro) variant details
- p.Thr709Pro
- rs758758729
- ClinGen CA9512879
- ClinVar RCV003725638
- ClinVar RCV005014903
- Likely pathogenic
- Cerebrooculofacioskeletal syndrome 2; Trichothiodystrophy 1, photosensitive; Xer
- Missense
- Variant Prioritization Score for Impact Estimate 0.738
- REVEL 0.81
- CADD 26.70
- PolyPhen-2 0.62
- SIFT 0.00
- ClinVar: Likely pathogenic (Cerebrooculofacioskeletal syndrome 2; Trichothiodystrophy 1, pho)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)
- Structural context available
- Cited in: Xeroderma Pigmentosum. (PMID 20301571)