S40L (p.Ser40Leu) variant of ERCC3 (P19447)
S40L (p.Ser40Leu) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
S40L (p.Ser40Leu) variant details
- p.Ser40Leu
- rs1251238422
- ClinGen CA348392226
- cosmic curated COSV10725
- ClinVar RCV004380522
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- REVEL 0.14
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 23.50
- PolyPhen-2 0.03
- SIFT 0.20
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- 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)