I7M (p.Ile7Met) variant of KRIT1 (O00522)
I7M (p.Ile7Met) in KRIT1 (O00522) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
I7M (p.Ile7Met) variant details
- p.Ile7Met
- Ensembl rs202176475
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- REVEL 0.10
- CADD 12.00
- PolyPhen-2 0.02
- SIFT 0.11
- Most common in the 1KG:CDX population (allele frequency 0.0057)
- Structural context available