P78S (p.Pro78Ser) variant of ERCC2 (P18074)
P78S (p.Pro78Ser) in ERCC2 (P18074) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
P78S (p.Pro78Ser) variant details
- p.Pro78Ser
- rs373292179
- ClinGen CA9513867
- ClinVar RCV002448192
- ClinVar RCV003098806
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.55
- REVEL 0.42
- CADD 23.00
- PolyPhen-2 0.01
- SIFT 0.37
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MANDENKA population (allele frequency 0.025)
- 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)