A54S (p.Ala54Ser) variant of ERCC2 (P18074)
A54S (p.Ala54Ser) in ERCC2 (P18074) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
A54S (p.Ala54Ser) variant details
- p.Ala54Ser
- TOPMed rs992698178
- gnomAD rs992698178
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- REVEL 0.30
- AlphaMissense 0.43
- MetaLR 0.24
- MetaSVM -0.77
- CADD 16.40
- PolyPhen-2 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available