S90F (p.Ser90Phe) variant of ERCC3 (P19447)
S90F (p.Ser90Phe) in ERCC3 (P19447) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
S90F (p.Ser90Phe) variant details
- p.Ser90Phe
- gnomAD rs1275332128
- Missense
- Variant Prioritization Score for Impact Estimate 0.845
- REVEL 0.83
- ESM-1b 1.00
- AlphaMissense 0.95
- CADD 29.60
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available