I17T (p.Ile17Thr) variant of WDR19 (WD repeat-containing protein 19)
I17T (p.Ile17Thr) in WDR19 (WD repeat-containing protein 19) 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, published literature, and structural context.
I17T (p.Ile17Thr) variant details
- p.Ile17Thr
- gnomAD 4-39185769-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.18
- ESM-1b 0.00
- AlphaMissense 0.30
- MetaLR 0.11
- MetaSVM -1.00
- CADD 22.40
- Most common in the HGDP:PIMA population (allele frequency 0.091)
- Structural context available
- Literature evidence available