P75T (p.Pro75Thr) variant of ERCC3 (P19447)
P75T (p.Pro75Thr) in ERCC3 (P19447) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
P75T (p.Pro75Thr) variant details
- p.Pro75Thr
- ExAC rs774644406
- gnomAD rs774644406
- Missense
- Variant Prioritization Score for Impact Estimate 0.836
- REVEL 0.83
- ESM-1b 1.00
- AlphaMissense 0.99
- CADD 27.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available