P91A (p.Pro91Ala) variant of ERCC3 (P19447)
P91A (p.Pro91Ala) in ERCC3 (P19447) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
P91A (p.Pro91Ala) variant details
- p.Pro91Ala
- TOPMed rs1438551749
- gnomAD rs1438551749
- Missense
- Variant Prioritization Score for Impact Estimate 0.654
- REVEL 0.56
- ESM-1b 1.00
- AlphaMissense 0.17
- CADD 23.90
- PolyPhen-2 0.48
- SIFT 0.05
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available