I68T (p.Ile68Thr) variant of XPA (P23025)
I68T (p.Ile68Thr) in XPA (P23025) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
I68T (p.Ile68Thr) variant details
- p.Ile68Thr
- rs368468515
- ClinGen CA5148884
- ClinVar RCV001508631
- ESP rs368468515
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.243
- REVEL 0.06
- CADD 21.90
- PolyPhen-2 0.00
- SIFT 0.35
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available