A34T (p.Ala34Thr) variant of ERCC2 (P18074)
A34T (p.Ala34Thr) in ERCC2 (P18074) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Xeroderma pigmentosum, group D; Trichothiodystrophy 1, photosensitive; Cerebrooc. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
A34T (p.Ala34Thr) variant details
- p.Ala34Thr
- rs768632615
- ClinGen CA9513934
- ClinVar RCV001927323
- ClinVar RCV002490158
- Uncertain significance
- Xeroderma pigmentosum, group D; Trichothiodystrophy 1, photosensitive; Cerebrooc
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- REVEL 0.27
- CADD 25.40
- PolyPhen-2 0.22
- SIFT 0.03
- ClinVar: Uncertain significance (Xeroderma pigmentosum, group D; Trichothiodystrophy 1, photosens)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BEDOUIN population (allele frequency 0.012)
- Structural context available
- Cited in: Xeroderma Pigmentosum. (PMID 20301571)