I7V (p.Ile7Val) variant of KRIT1 (O00522)
I7V (p.Ile7Val) in KRIT1 (O00522) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
I7V (p.Ile7Val) variant details
- p.Ile7Val
- gnomAD rs1799805515
- Missense
- Variant Prioritization Score for Impact Estimate 0.151
- REVEL 0.07
- CADD 13.00
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the 1KG:GWD population (allele frequency 0.0043)
- Structural context available