D35E (p.Asp35Glu) variant of XPC (Q01831)
D35E (p.Asp35Glu) in XPC (Q01831) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided; Xeroderma pigmentosum, group C. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
D35E (p.Asp35Glu) variant details
- p.Asp35Glu
- rs202128104
- ClinGen CA2267795
- ClinVar RCV001144644
- ClinVar RCV001445409
- Likely benign
- not provided; Xeroderma pigmentosum, group C
- Missense
- Variant Prioritization Score for Impact Estimate 0.145
- REVEL 0.04
- CADD 21.10
- PolyPhen-2 0.00
- SIFT 0.06
- ClinVar: Likely benign (not provided; Xeroderma pigmentosum, group C)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:YI population (allele frequency 0.05)
- Structural context available
- Cited in: Xeroderma Pigmentosum. (PMID 20301571)