L48F (p.Leu48Phe) variant of XPC (Q01831)
L48F (p.Leu48Phe) in XPC (Q01831) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not specified; not provided; Xeroderma pigmentosum group A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
L48F (p.Leu48Phe) variant details
- p.Leu48Phe
- rs2229089
- ClinGen CA162883
- ClinVar RCV000122333
- ClinVar RCV000348650
- Benign/Likely benign
- not specified; not provided; Xeroderma pigmentosum group A
- Missense
- Variant Prioritization Score for Impact Estimate 0.152
- REVEL 0.09
- CADD 3.38
- PolyPhen-2 0.01
- SIFT 0.71
- ClinVar: Benign/Likely benign (not specified; not provided; Xeroderma pigmentosum group A)
- EBI: Benign (in dbSNP:rs2229089)
- UniProt: Benign (in dbSNP:rs2229089)
- Most common in the HGDP:KALASH population (allele frequency 0.071)
- Structural context available
- Cited in: Xeroderma Pigmentosum. (PMID 20301571)