P91S (p.Pro91Ser) variant of ERCC3 (P19447)
P91S (p.Pro91Ser) in ERCC3 (P19447) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
P91S (p.Pro91Ser) variant details
- p.Pro91Ser
- cosmic curated COSV53428
- TOPMed rs1438551749
- gnomAD rs1438551749
- Missense
- Variant Prioritization Score for Impact Estimate 0.725
- REVEL 0.67
- ESM-1b 1.00
- AlphaMissense 0.26
- CADD 26.70
- PolyPhen-2 0.73
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available