P123A (p.Pro123Ala) variant of ERCC2 (P18074)
P123A (p.Pro123Ala) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
P123A (p.Pro123Ala) variant details
- p.Pro123Ala
- rs994071519
- ClinGen CA406376298
- ClinVar RCV003306678
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- REVEL 0.34
- AlphaMissense 0.06
- MetaLR 0.10
- MetaSVM -1.00
- CADD 17.90
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-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)