P75L (p.Pro75Leu) variant of ERCC3 (P19447)
P75L (p.Pro75Leu) in ERCC3 (P19447) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided; Xeroderma pigmentosum. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
P75L (p.Pro75Leu) variant details
- p.Pro75Leu
- rs553774995
- ClinGen CA1858598
- ClinVar RCV001863747
- ClinVar RCV002256850
- Uncertain significance
- Inborn genetic diseases; not provided; Xeroderma pigmentosum
- Missense
- Variant Prioritization Score for Impact Estimate 0.82
- REVEL 0.78
- ESM-1b 1.00
- AlphaMissense 0.98
- CADD 29.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided; Xeroderma pigmentosum)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.0063)
- 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)