I7T (p.Ile7Thr) variant of KRIT1 (O00522)
I7T (p.Ile7Thr) in KRIT1 (O00522) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
I7T (p.Ile7Thr) variant details
- p.Ile7Thr
- cosmic curated COSV56061
- TOPMed rs1218350640
- gnomAD rs1218350640
- Missense
- Variant Prioritization Score for Impact Estimate 0.199
- REVEL 0.14
- CADD 18.10
- PolyPhen-2 0.00
- SIFT 0.39
- Most common in the Ashkenazi Jewish population (allele frequency 0.0026)
- Structural context available