T72N (p.Thr72Asn) variant of ERCC3 (P19447)
T72N (p.Thr72Asn) in ERCC3 (P19447) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
T72N (p.Thr72Asn) variant details
- p.Thr72Asn
- ExAC rs763746043
- TOPMed rs763746043
- gnomAD rs763746043
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.129
- REVEL 0.09
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 14.50
- PolyPhen-2 0.00
- SIFT 0.26
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available