P30T (p.Pro30Thr) variant of ERCC3 (P19447)
P30T (p.Pro30Thr) 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 0.24 / 1. The record also includes population frequency data and structural context.
P30T (p.Pro30Thr) variant details
- p.Pro30Thr
- ExAC rs751320999
- TOPMed rs751320999
- gnomAD rs751320999
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.05
- MetaLR 0.10
- MetaSVM -1.04
- CADD 18.70
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available