S90C (p.Ser90Cys) variant of ERCC3 (P19447)
S90C (p.Ser90Cys) in ERCC3 (P19447) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
S90C (p.Ser90Cys) variant details
- p.Ser90Cys
- cosmic curated COSV53429
- gnomAD rs1275332128
- Missense
- Variant Prioritization Score for Impact Estimate 0.784
- REVEL 0.77
- ESM-1b 1.00
- AlphaMissense 0.23
- CADD 28.70
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available