P91L (p.Pro91Leu) variant of ERCC3 (P19447)
P91L (p.Pro91Leu) in ERCC3 (P19447) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
P91L (p.Pro91Leu) variant details
- p.Pro91Leu
- ExAC rs776911903
- gnomAD rs776911903
- Missense
- Variant Prioritization Score for Impact Estimate 0.812
- REVEL 0.80
- ESM-1b 1.00
- AlphaMissense 0.36
- CADD 31.00
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the East Asian population (allele frequency 0.00033)
- Structural context available