L461V (p.Leu461Val) variant of ERCC2 (P18074)
L461V (p.Leu461Val) in ERCC2 (P18074) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Xeroderma pigmentosum. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
L461V (p.Leu461Val) variant details
- p.Leu461Val
- rs121913016
- ClinGen CA158746
- cosmic curated COSV10593
- ClinVar RCV000018267
- Pathogenic
- Xeroderma pigmentosum
- Missense
- Variant Prioritization Score for Impact Estimate 0.692
- REVEL 0.74
- CADD 27.30
- PolyPhen-2 0.76
- SIFT 0.00
- ClinVar: Pathogenic (Xeroderma pigmentosum)
- EBI: Pathogenic (in XP-D and TTD1)
- UniProt: Pathogenic (in XP-D and TTD1)
- Most common in the HGDP:BALOCHI population (allele frequency 0.022)
- Structural context available
- Cited in: Structural and mutational analysis of the xeroderma pigmentosum group D (XPD) gene. (PMID 7849702)
- Cited in: Defects in the DNA repair and transcription gene ERCC2(XPD) in trichothiodystrophy. (PMID 8571952)