I13T (p.Ile13Thr) variant of CDC73 (Parafibromin)
I13T (p.Ile13Thr) in CDC73 (Parafibromin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
I13T (p.Ile13Thr) variant details
- p.Ile13Thr
- gnomAD 1-193122238-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- REVEL 0.30
- MetaLR 0.40
- MetaSVM -0.51
- CADD 23.50
- PolyPhen-2 0.00
- SIFT 0.38
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available
- Literature evidence available