S13P (p.Ser13Pro) variant of ERCC5 (P28715)
S13P (p.Ser13Pro) in ERCC5 (P28715) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
S13P (p.Ser13Pro) variant details
- p.Ser13Pro
- TOPMed rs1881955244
- Missense
- Variant Prioritization Score for Impact Estimate 0.702
- CADD 26.90
- PolyPhen-2 0.98
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available