P75S (p.Pro75Ser) variant of ERCC3 (P19447)
P75S (p.Pro75Ser) in ERCC3 (P19447) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
P75S (p.Pro75Ser) variant details
- p.Pro75Ser
- ExAC rs774644406
- gnomAD rs774644406
- Missense
- Variant Prioritization Score for Impact Estimate 0.801
- REVEL 0.75
- ESM-1b 1.00
- AlphaMissense 0.99
- CADD 28.50
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available