T8I (p.Thr8Ile) variant of IFT172 (Q9UG01)
T8I (p.Thr8Ile) in IFT172 (Q9UG01) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
T8I (p.Thr8Ile) variant details
- p.Thr8Ile
- gnomAD rs1572846688
- Missense
- Variant Prioritization Score for Impact Estimate 0.566
- REVEL 0.39
- CADD 28.80
- PolyPhen-2 0.87
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available