I69S (p.Ile69Ser) variant of XPA (P23025)
I69S (p.Ile69Ser) in XPA (P23025) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
I69S (p.Ile69Ser) variant details
- p.Ile69Ser
- ExAC rs755315448
- TOPMed rs755315448
- gnomAD rs755315448
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.44
- CADD 24.20
- PolyPhen-2 0.60
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available