L16V (p.Leu16Val) variant of XPC (Q01831)
L16V (p.Leu16Val) in XPC (Q01831) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Xeroderma pigmentosum, group C; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data, published literature, and structural context.
L16V (p.Leu16Val) variant details
- p.Leu16Val
- rs1870134
- ClinGen CA162853
- ClinVar RCV000122323
- ClinVar RCV000333184
- Benign
- Xeroderma pigmentosum, group C; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0524
- REVEL 0.05
- CADD 0.30
- PolyPhen-2 0.00
- SIFT 0.17
- ClinVar: Benign (Xeroderma pigmentosum, group C; not specified; not provided)
- EBI: Benign (in dbSNP:rs1870134)
- UniProt: Benign (in dbSNP:rs1870134)
- Most common in the HGDP:PAPUANSEPIK population (allele frequency 0.5)
- Structural context available
- Cited in: CEBPA-Associated Familial Acute Myeloid Leukemia (AML). (PMID 20963938)
- Cited in: NCCN Task Force report: Evaluating the clinical utility of tumor markers in oncology. (PMID 22138009)