S94I (p.Ser94Ile) variant of XPC (Q01831)
S94I (p.Ser94Ile) in XPC (Q01831) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
S94I (p.Ser94Ile) variant details
- p.Ser94Ile
- ExAC rs763230547
- gnomAD rs763230547
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.11
- CADD 23.40
- PolyPhen-2 0.45
- SIFT 0.01
- Most common in the South Asian population (allele frequency 5.8e-05)
- Structural context available