P19L (p.Pro19Leu) variant of ERCC5 (P28715)
P19L (p.Pro19Leu) in ERCC5 (P28715) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; Cerebrooculofacioskeletal syndrome 3; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
P19L (p.Pro19Leu) variant details
- p.Pro19Leu
- rs34291397
- ClinGen CA158939
- cosmic curated COSV99053
- ClinVar RCV000120832
- Conflicting interpretations
- Inborn genetic diseases; Cerebrooculofacioskeletal syndrome 3; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.776
- CADD 24.50
- PolyPhen-2 0.99
- SIFT 0.10
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Cerebrooculofacioskeletal syndrome 3; n)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 0.0011)
- 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)