V87L (p.Val87Leu) variant of XPC (Q01831)
V87L (p.Val87Leu) in XPC (Q01831) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Xeroderma pigmentosum, group C; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
V87L (p.Val87Leu) variant details
- p.Val87Leu
- rs374572265
- ClinGen CA2267769
- ClinVar RCV002258655
- ClinVar RCV003138132
- Uncertain significance
- not provided; Xeroderma pigmentosum, group C; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.102
- REVEL 0.04
- CADD 5.94
- PolyPhen-2 0.04
- SIFT 0.11
- ClinVar: Uncertain significance (not provided; Xeroderma pigmentosum, group C; Inborn genetic dis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)