P30R (p.Pro30Arg) variant of ERCC3 (P19447)
P30R (p.Pro30Arg) in ERCC3 (P19447) 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 0.27 / 1. The record also includes structural context.
P30R (p.Pro30Arg) variant details
- p.Pro30Arg
- TOPMed rs1371919188
- gnomAD rs1371919188
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- ESM-1b 0.00
- AlphaMissense 0.10
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available